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List of works by Schu-Rern Chern

22q11.2 microdeletion in a fetus with double-outlet right ventricle, pulmonary stenosis and a ventricular septal defect: prenatal diagnosis by array comparative genomic hybridization

scientific article published on 01 December 2009

22q13 deletion syndrome in a fetus associated with microtia, hemivertebrae, and congenital heart defects on prenatal ultrasound

scientific article published on 01 June 2016

3q26.31-q29 duplication and 9q34.3 microdeletion associated with omphalocele, ventricular septal defect, abnormal first-trimester maternal serum screening and increased nuchal translucency: prenatal diagnosis and aCGH characterization

scientific article

6p21.2-p12.3 deletion detected by aCGH in an 8-year-old girl with cleidocranial dysplasia and developmental delay

scientific article published on 8 April 2013

A 1.37-Mb 12p11.22-p11.21 deletion coincident with a 367-kb 22q11.2 duplication detected by array comparative genomic hybridization in an adolescent girl with autism and difficulty in self-care of menstruation

scientific article published on March 2014

A 12 Mb deletion of 6p24.1-->pter in an 18-gestational-week fetus with orofacial clefting, the Dandy-Walker malformation and bilateral multicystic kidneys

scientific article published on 19 November 2008

A 5.6-Mb deletion in 15q14 in a boy with speech and language disorder, cleft palate, epilepsy, a ventricular septal defect, mental retardation and developmental delay

scientific article published on 29 March 2008

A comparison of maternal age, sex ratio and associated major anomalies among fetal trisomy 18 cases with different cell division of error

scientific article published on 01 April 2005

A de novo 4.4-Mb microdeletion in 2p24.3 → p24.2 in a girl with bilateral hearing impairment, microcephaly, digit abnormalities and Feingold syndrome ⬇️

scientific article published on July 25, 2012

A de novo 7.9 Mb deletion in 22q13.2→qter in a boy with autistic features, epilepsy, developmental delay, atopic dermatitis and abnormal immunological findings

scientific article published on 9 June 2010

A de novo duplication of chromosome 21q22.11→qter associated with Down syndrome: Prenatal diagnosis, molecular cytogenetic characterization and fetal ultrasound findings ⬇️

scientific article published on December 1, 2011

A paternally derived inverted duplication of distal 14q with a terminal 14q deletion

scientific article published in December 2005

Abnormally flat facial profile on two- and three-dimensional ultrasound and array comparative genomic hybridization for the diagnosis of Pallister-Killian syndrome

scientific article published on 01 March 2010

Alobar holoprosencephaly, cebocephaly, and micropenis in a Klinefelter fetus of a diabetic mother

scientific article published in December 2012

An interstitial deletion of 8q23.3-q24.22 associated with Langer-Giedion syndrome, Cornelia de Lange syndrome and epilepsy

scientific article published on 7 August 2013

Apert syndrome associated with upper airway obstruction and gastroesophageal reflux inducing polyhydramnios in the third trimester

Application of interphase FISH to uncultured amniocytes for rapid confirmation of true trisomy 2 mosaicism in the case of suspected amniocyte mosaicism involving trisomy 2 in a single colony

scientific article

Application of interphase fluorescence in situ hybridization to uncultured amniocytes for differential diagnosis of pseudomosaicism from true mosaicism in mosaic isochromosome 20q detected at amniocentesis

scientific article

Application of non-invasive prenatal testing in late gestation in a pregnancy associated with intrauterine growth restriction and trisomy 22 confined placental mosaicism

scientific article published in October 2017

Array CGH characterization of an unbalanced X-autosome translocation associated with Xq27.2-qter deletion, 11q24.3-qter duplication and Xq22.3-q27.1 duplication in a girl with primary amenorrhea and mental retardation

scientific article published on 23 November 2013

Array comparative genomic hybridization characterization of a 3.3-Mb 17p13.3-p13.2 deletion encompassing YWHAE, CRK, HIC1 and PAFAH1B1 in an 8-year-old girl with Miller-Dieker lissencephaly syndrome, congenital heart defects, growth restriction and d

scientific article published on 01 October 2018

Array-CGH detection of a de novo 2.8 Mb deletion in 2q24.2-->q24.3 in a girl with autistic features and developmental delay

scientific article published on 24 March 2010

Balanced Reciprocal Translocations Detected at Amniocentesis ⬇️

scientific article published on 01 December 2010

Characterization of a de novo unbalanced Y;autosome translocation in a 45,X mentally retarded male and literature review

scientific article published on 04 March 2008

Chromosome 15q overgrowth syndrome: Prenatal diagnosis, molecular cytogenetic characterization, and perinatal findings in a fetus with dup(15)(q26.2q26.3) ⬇️

scientific article published on September 1, 2011

Chromosome 17p13.3 deletion syndrome: aCGH characterization, prenatal findings and diagnosis, and literature review

scientific article

Chromosome 18p deletion syndrome presenting holoprosencephaly and premaxillary agenesis: prenatal diagnosis and aCGH characterization using uncultured amniocytes.

scientific article

Chromosome 1p32-p31 deletion syndrome: prenatal diagnosis by array comparative genomic hybridization using uncultured amniocytes and association with NFIA haploinsufficiency, ventriculomegaly, corpus callosum hypogenesis, abnormal external genitalia

scientific article published on September 2011

Chromosome 1p36 deletion syndrome: prenatal diagnosis, molecular cytogenetic characterization and fetal ultrasound findings

scientific article published in December 2010

Chromosome 22q11.2 deletion syndrome: prenatal diagnosis, array comparative genomic hybridization characterization using uncultured amniocytes and literature review

scientific article published on 17 June 2013

Clinical, cytogenetic, and molecular analyses of prenatally diagnosed mosaic tetrasomy for distal chromosome 15q and review of the literature

scientific article published in October 2004

Clinical, cytogenetic, and molecular findings of prenatally diagnosed mosaic trisomy 4.

scientific article published on January 2004

Concomitant omphalocele and anencephaly associated with trisomy 18 and arthrogryposis diagnosed in early pregnancy

scientific article published on 01 March 2008

Concordant myelomeningocele in dizygotic twins conceived by intracytoplasmic sperm injection, in vitro fertilization, and embryo transfer

scientific article published on 01 December 2013

Cri-du-chat (5p-) syndrome presenting with cerebellar hypoplasia and hypospadias: prenatal diagnosis and aCGH characterization using uncultured amniocytes

scientific article published on 14 March 2013

Cystic fibrosis with homozygous R553X mutation in a Taiwanese child

scientific article published on 10 November 2005

Cytogenetic discrepancy between uncultured amniocytes and cultured amniocytes in mosaic isochromosome 20q detected at amniocentesis ⬇️

scientific article published on June 1, 2011

Cytogenetic variability in the proportion of abnormal cells between the various tissues in prenatally detected mosaic tetrasomy 12p

scientific article published on 01 December 2007

De novo duplication of Xq22.1→q24 with a disruption of the NXF gene cluster in a mentally retarded woman with short stature and premature ovarian failure ⬇️

scientific article published on September 1, 2011

De novo unbalanced translocation resulting in monosomy for distal 5p (5p14.1 → pter) and 14q (14q32.31 → qter) associated with fetal nuchal edema, microcephaly, intrauterine growth restriction, and single umbilical artery: prenatal diagnosis and mol

scientific article published on September 2013

Detection and comparison of cytomegalovirus DNA levels in amniotic fluid and fetal ascites in a second-trimester fetus with massive ascites, hyperechogenic bowel, ventriculomegaly and intrauterine growth restriction

scientific article published in June 2010

Detection of a novel c.7106_7110delinsT heterozygous mutation in the FLNA gene in an asymptomatic mother with periventricular nodular heterotopia during prenatal genetic counseling

scientific article published in December 2016

Detection of altered methylation status at 11p15.5 and 7q32 in placental mesenchymal dysplasia

scientific article published in March 2014

Detection of balanced homologous acrocentric rearrangement rea(14q14q) and low-grade X-chromosome mosaicism in a couple with repeated pregnancy losses

scientific article published on 01 June 2010

Detection of de novo secondary trisomy 13 due to isochromosome (13q;13q) of paternal origin in a pregnancy with fetal cystic hygroma

scientific article published on 01 February 2015

Detection of maternal transmission of a splicing mutation in the TSC2 gene following prenatal diagnosis of fetal cardiac rhabdomyomas mimicking congenital cystic adenomatoid malformation of the lung and cerebral tubers and awareness of a family hist

scientific article published in September 2013

Detection of mosaic 15q11.1-q11.2 deletion encompassing NBEAP1 and POTEB in a fetus with diffuse lymphangiomatosis

scientific article published in April 2017

Detection of no isochromosome 20q by interphase fluorescent in situ hybridization on uncultured amniocytes in a pregnancy with mosaic isochromosome 20q in cultured amniocytes at amniocentesis.

scientific article

Detection of paternal uniparental disomy 9 in a neonate with prenatally detected mosaicism for a small supernumerary marker chromosome 9 and a supernumerary ring chromosome 9

scientific article published on 01 August 2017

Detection of recurrent transmission of 17q12 microdeletion by array comparative genomic hybridization in a fetus with prenatally diagnosed hydronephrosis, hydroureter, and multicystic kidney, and variable clinical spectrum in the family

scientific article published in December 2013

Directly transmitted 4.5-Mb triplication of 4q12-q13.1: prenatal diagnosis and molecular cytogenetic characterization

scientific article published on 01 March 2014

Discordant anencephaly and Cantrell syndrome in monozygotic twins conceived by ICSI and IVF-ET

scientific article published on 01 June 2013

Discrepancy in the trisomy mosaicism level between cultured amniocytes and uncultured amniocytes in prenatally detected mosaic trisomy 20.

scientific article published in March 2013

Distal 3p duplication and terminal 7q deletion associated with nuchal edema and cyclopia in a fetus and a review of the literature

scientific article

Double aneuploidy with Edwards–Klinefelter syndromes (48,XXY,+18) of maternal origin: Prenatal diagnosis and molecular cytogenetic characterization in a fetus with arthrogryposis of the left wrist and aplasia of the left thumb ⬇️

scientific article published on December 1, 2011

Down syndrome due to unbalanced homologous acrocentric rearrangements and its recurrence in subsequent pregnancies: prenatal diagnosis by amniocentesis

scientific article published on 01 December 2009

Early second-trimester diagnosis of monozygotic twins discordant for cystic hygroma colli and Turner syndrome

scientific article published on 01 April 2003

Ellis-Van Creveld Syndrome: Prenatal Diagnosis, Molecular Analysis and Genetic Counseling ⬇️

scientific article published on December 1, 2010

Familial transmission of recurrent 15q11.2 (BP1-BP2) microdeletion encompassing NIPA1, NIPA2, CYFIP1, and TUBGCP5 associated with phenotypic variability in developmental, speech, and motor delay

scientific article published in February 2017

Fetoplacental and fetoamniotic chromosomal discrepancies in prenatally detected mosaic trisomy 9

scientific article published on 01 December 2003

First-trimester diagnosis of recurrent omphalocele associated with fetal trisomy 18 but without parental mosaicism

scientific article published on 01 April 2015

First-trimester molecular diagnosis of complete hydatidiform mole associated with dizygotic twin pregnancy conceived by intrauterine insemination

scientific article published on December 2014

First-trimester prenatal diagnosis of Ellis-van Creveld syndrome

scientific article published in December 2012

First-trimester sonographic demonstration of digynic triploidy

scientific article published in December 2013

Identification of a COL1A2 mutation with a deletion spanning coding and intronic sequence in exon 19 and intron 19 in a fetus with osteogenesis imperfecta type II ⬇️

scientific article published on 01 June 2012

Identification of a deletion mutation in the short flanking repeat region of exon 44 of the COL1A1 gene in a fetus with osteogenesis imperfecta type II

scientific article published on 01 June 2012

Interphase FISH on uncultured amniocytes at repeat amniocentesis for rapid confirmation of low-level mosaicism for tetrasomy 18p

scientific article published on 01 March 2014

Interphase FISH on uncultured amniocytes at repeat amniocentesis for rapid diagnosis of true mosaicism in a case of level II mosaicism involving trisomy 21 in a single colony from an in situ culture of amniocytes

scientific article published on 01 March 2014

Interphase fluorescence in situ hybridization characterization of mosaicism using uncultured amniocytes and cultured stimulated cord blood lymphocytes in prenatally detected Pallister-Killian syndrome.

scientific article published in December 2014

Inv dup del(10q): Identification by fluorescence in situ hybridization and array comparative genomic hybridization in a fetus with two concurrent chromosomal rearrangements ⬇️

scientific article published on 01 June 2012

Inv dup del(9p): Prenatal diagnosis and molecular cytogenetic characterization by fluorescence in situ hybridization and array comparative genomic hybridization ⬇️

scientific article published on 01 March 2011

Kabuki syndrome in a girl with mosaic 45,X/47,XXX and aortic coarctation

scientific article published on 22 October 2007

Limb-body wall complex in one fetus of a dizygotic twin pregnancy conceived by egg donation, in vitro fertilization and embryo transfer: prenatal diagnosis and literature review

scientific article published on December 2009

Magnetic resonance imaging demonstration of sirenomelia in one fetus of a dizygotic twin pregnancy conceived by intracytoplasmic sperm injection, in vitro fertilization and embryo transfer ⬇️

scientific article published on 01 December 2011

Maternal transmission of interstitial microdeletion in 5q13.2 detected during prenatal diagnosis of coarctation of the aorta

scientific article published in June 2013

Microvillus Inclusion Disease: Prenatal Ultrasound Findings, Molecular Diagnosis and Genetic Counseling of Congenital Diarrhea ⬇️

scientific article published on December 1, 2010

Molecular cytogenetic analysis of de novo dup(5)(q33.1q31.1) associated with abnormal perinatal findings

scientific article published on 01 February 2006

Molecular cytogenetic analysis of de novo dup(5)(q35.2q35.3) and review of the literature of pure partial trisomy 5q.

scientific article published in July 2006

Molecular cytogenetic characterization and prenatal diagnosis of familial Xp22.33 microdeletion encompassing short stature homeobox gene in a male fetus with a favorable outcome.

scientific article

Molecular cytogenetic characterization of Jacobsen syndrome (11q23.3-q25 deletion) in a fetus associated with double outlet right ventricle, hypoplastic left heart syndrome and ductus venosus agenesis on prenatal ultrasound

scientific article

Molecular cytogenetic characterization of Xp22.32→pter deletion and Xq26.3→qter duplication in a male fetus associated with 46,Y,rec(X)dup(Xq) inv(X)(p22.3q26.3), a hypoplastic left heart, short stature, and maternal X chromosome pericentric inversi

scientific article published on 01 October 2016

Molecular cytogenetic characterization of a duplication of 15q24.2-q26.2 associated with anencephaly and neural tube defect

scientific article published on 01 August 2017

Molecular cytogenetic characterization of an inv dup(15) chromosome presenting as a small supernumerary marker chromosome associated with the inv dup(15) syndrome

scientific article published in October 2016

Molecular cytogenetic characterization of inv dup del(8p) in a fetus associated with ventriculomegaly, hypoplastic left heart, polyhydramnios and intestinal obstruction

scientific article published on 01 June 2016

Molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 8 or r(8)(::p12→q13.1::) associated with phenotypic abnormalities

scientific article

Molecular diagnosis of a novel heterozygous 268C-->T (R90C) mutation in TGIF gene in a fetus with holoprosencephaly and premaxillary agenesis

scientific article (publication date: 2002)

Molecular genetic characterization of a prenatally detected 1.484-Mb Xq13.3-q21.1 duplication encompassing ATRX and a literature review of syndromic intellectual disability and congenital abnormalities in males with a duplication at Xq13.3-q21.1.

scientific article

Molecular genetic characterization of a prenatally detected de novo interstitial deletion of chromosome 20p (20p12-p13) encompassing JAG1 and a literature review of prenatal diagnosis of Alagille syndrome

scientific article

Molecular genetic characterization of a prenatally detected de novo interstitial deletion of chromosome 2q (2q31.1-q32.1) encompassing HOXD13, ZNF385B and ZNF804A associated with syndactyly and increased first-trimester nuchal translucency.

scientific article published in June 2017

Monozygotic twins with trisomy 18 of paternal origin: prenatal diagnosis and molecular cytogenetic characterization in a pregnancy with one structurally abnormal living fetus and one intrauterine fetal demise ⬇️

scientific article published on September 1, 2012

Mosaic Trisomy 7 at Amniocentesis: Prenatal Diagnosis and Molecular Genetic Analyses ⬇️

scientific article published on September 1, 2010

Mosaic deletion-duplication syndrome of chromosome 3: Prenatal molecular cytogenetic diagnosis using cultured and uncultured amniocytes and association with fetoplacental discrepancy ⬇️

scientific article published on 01 December 2011

Mosaic ring chromosome 21, monosomy 21, and isodicentric ring chromosome 21: prenatal diagnosis, molecular cytogenetic characterization, and association with 2-Mb deletion of 21q21.1-q21.2 and 5-Mb deletion of 21q22.3.

scientific article published on 01 March 2012

Mosaic small supernumerary marker chromosome 1 at amniocentesis: prenatal diagnosis, molecular genetic analysis and literature review

scientific article published on 07 August 2013

Mosaic tetrasomy 12p with discrepancy between fetal tissues and extraembryonic tissues: molecular analysis and possible mechanism of formation

scientific article published on 01 June 2010

Mosaic tetrasomy 9p at amniocentesis: prenatal diagnosis, molecular cytogenetic characterization, and literature review

scientific article published on March 2014

Mosaic trisomy 12 at amniocentesis: prenatal diagnosis and molecular genetic analysis

scientific article published on March 2013

Mosaic trisomy 14 at amniocentesis: prenatal diagnosis and literature review

scientific article published on September 2013

Mosaic trisomy 15 at amniocentesis: Prenatal diagnosis, molecular genetic analysis and literature review

scientific article

Mosaic trisomy 17 at amniocentesis: Prenatal diagnosis, molecular genetic analysis, and literature review

scientific article

Mosaic trisomy 2 at amniocentesis: prenatal diagnosis and molecular genetic analysis

scientific article

Mosaic trisomy 9 at amniocentesis: prenatal diagnosis and molecular genetic analyses

scientific article published on September 2010

NFkappaB2 gene duplication is associated with fetal pyelectasis in partial trisomy 10q (10q24.1 --> qter)

scientific article published on 01 April 2008

Osteogenesis imperfecta type I: Second-trimester diagnosis and incidental identification of a dominant COL1A1 deletion mutation in the paucisymptomatic father ⬇️

scientific article published on June 1, 2012

Osteogenesis imperfecta type II: Prenatal diagnosis and association with increased nuchal translucency and hypoechogenicity of the cranium ⬇️

scientific article published on 01 June 2012

Osteogenesis imperfecta type IV: Prenatal molecular diagnosis and genetic counseling in a pregnancy carried to full term with favorable outcome ⬇️

scientific article published on 01 June 2012

Partial Trisomy 10q (10q25.1 →qter) and Partial Monosomy 13q (13q34→qter) Presenting With Fetal Pyelectasis: Prenatal Diagnosis and Array Comparative Genomic Hybridization Characterization ⬇️

scientific article published on 01 December 2010

Partial Trisomy 16p (16p12.2→pter) and Partial Monosomy 22q (22q13.31 →qter) Presenting With Fetal Ascites and Ventriculomegaly: Prenatal Diagnosis and Array Comparative Genomic Hybridization Characterization ⬇️

scientific article published on 01 December 2010

Partial monosomy 13q (13q21.32→qter) and partial trisomy 8p (8p12→pter) presenting with anencephaly and increased nuchal translucency: array comparative genomic hybridization characterization ⬇️

scientific article published on 01 June 2011

Perinatal findings and molecular cytogenetic analysis of de novo partial trisomy 16q (16q22.1-->qter) and partial monosomy 20q (20q13.3-->qter).

scientific article

Perinatal findings and molecular cytogenetic analysis of trisomy 16q and 22q13.3 deletion

scientific article published on 01 June 2003

Perinatal imaging findings and molecular genetic analysis of thanatophoric dysplasia type 1 in a fetus with a c.2419T>G (p.Ter807Gly) (X807G) mutation in FGFR3.

scientific article published in February 2017

Pfeiffer syndrome with FGFR2 C342R mutation presenting extreme proptosis, craniosynostosis, hearing loss, ventriculomegaly, broad great toes and thumbs, maxillary hypoplasia, and laryngomalacia

scientific article published in June 2017

Pfeiffer syndrome with FGFR2 W290C mutation perinatally presenting extreme proptosis.

scientific article

Placenta proteome analysis from Down syndrome pregnancies for biomarker discovery ⬇️

scientific article published on July 9, 2012

Placental mesenchymal dysplasia associated with antepartum hemorrhage, subchorionic hematoma, and intrauterine growth restriction

scientific article published on 01 March 2013

Prenatal Diagnosis and Molecular Cytogenetic Characterization of a Small Supernumerary Marker Chromosome Derived From Chromosome 21 ⬇️

scientific article published on 01 September 2010

Prenatal Diagnosis and Molecular Cytogenetic Characterization of a Small Supernumerary Marker Chromosome Derived From Chromosome 22 ⬇️

scientific article published on 01 September 2010

Prenatal diagnosis and array comparative genomic hybridization characterization of a de novo X;Y translocation ⬇️

scientific article published on 01 September 2012

Prenatal diagnosis and array comparative genomic hybridization characterization of a de novo interstitial deletion of chromosome 20p ⬇️

scientific article published on 01 June 2011

Prenatal diagnosis and array comparative genomic hybridization characterization of interstitial deletions of 8q23.3-q24.11 and 8q24.13 associated with Langer-Giedion syndrome, Cornelia de Lange syndrome and haploinsufficiency of TRPS1, RAD21 and EXT

scientific article published on 01 October 2015

Prenatal diagnosis and array comparative genomic hybridization characterization of trisomy 21 in a fetus associated with right congenital diaphragmatic hernia and a review of the literature of chromosomal abnormalities associated with congenital dia

scientific article

Prenatal diagnosis and molecular analysis of triploidy in a fetus with intrauterine growth restriction, relative macrocephaly and holoprosencephaly

scientific article published on 01 September 2009

Prenatal diagnosis and molecular analysis of trisomy 13 mosaicism

scientific article published on 01 September 2009

Prenatal diagnosis and molecular cytogenetic analysis of partial monosomy 10q (10q25.3-->qter) and partial trisomy 18q (18q23-->qter) in a fetus associated with cystic hygroma and ambiguous genitalia

scientific article published on 01 June 2005

Prenatal diagnosis and molecular cytogenetic characterization of a 1.07-Mb microdeletion at 5q35.2-q35.3 associated with NSD1 haploinsufficiency and Sotos syndrome

scientific article published on 01 December 2014

Prenatal diagnosis and molecular cytogenetic characterization of a de novo interstitial deletion of 7q (7q22.1→q31.1)

scientific article published on 29 March 2013

Prenatal diagnosis and molecular cytogenetic characterization of a de novo interstitial duplication of 11q (11q22.3→q23.3) associated with abnormal maternal serum biochemistry

scientific article published in March 2013

Prenatal diagnosis and molecular cytogenetic characterization of a de novo interstitial duplication of 14q (14q31.3→q32.12) associated with abnormal maternal serum biochemistry

scientific article published on 01 March 2013

Prenatal diagnosis and molecular cytogenetic characterization of a de novo proximal interstitial deletion of chromosome 4p (4p15.2→p14).

scientific article published on 13 August 2013

Prenatal diagnosis and molecular cytogenetic characterization of a de novo pure distal 9p deletion and literature review

scientific article published on 24 August 2013

Prenatal diagnosis and molecular cytogenetic characterization of a de novo unbalanced reciprocal translocation of der(9)t(9;14)(p24.2;q32.11) associated with 9p terminal deletion and 14q distal duplication

scientific article published on 01 August 2016

Prenatal diagnosis and molecular cytogenetic characterization of a derivative chromosome der(18;18)(q10;q10)del(18)(q11.1q12.1)del(18)(q22.1q22.3) presenting as apparent isochromosome 18q in a fetus with holoprosencephaly.

scientific article

Prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome derived from chromosome 18 and associated with a reciprocal translocation involving chromosomes 17 and 18

scientific article published on 01 June 2010

Prenatal diagnosis and molecular cytogenetic characterization of an interstitial deletion of 18q12.1-q12.3 encompassing DTNA, CELF4 and SETBP1.

scientific article published in December 2017

Prenatal diagnosis and molecular cytogenetic characterization of concomitant familial small supernumerary marker chromosome derived from chromosome 4q (4q11.1-q13.2) and 5q13.2 microdeletion with no apparent phenotypic abnormality

scientific article published in April 2017

Prenatal diagnosis and molecular cytogenetic characterization of de novo partial trisomy 12q (12q24.21→qter) and partial monosomy 6q (6q27→qter) associated with coarctation of the aorta, ventriculomegaly and thickened nuchal fold

scientific article published on 22 December 2012

Prenatal diagnosis and molecular cytogenetic characterization of de novo partial trisomy 7p (7p15.3→pter) and partial monosomy 13q (13q33.3→qter) associated with Dandy-Walker malformation, abnormal skull development and microcephaly

scientific article published on September 2010

Prenatal diagnosis and molecular cytogenetic characterization of de novo pure partial trisomy 6p associated with microcephaly, craniosynostosis and abnormal maternal serum biochemistry

scientific article published on 25 December 2013

Prenatal diagnosis and molecular cytogenetic characterization of low-level mosaicism for tetrasomy 18p at amniocentesis in a pregnancy with a favorable outcome

scientific article published in December 2017

Prenatal diagnosis and molecular cytogenetic characterization of low-level true mosaicism for trisomy 21 using uncultured amniocytes.

scientific article published in April 2016

Prenatal diagnosis and molecular cytogenetic characterization of mosaic ring chromosome 13

scientific article published on 08 August 2013

Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 11.

scientific article published in June 2017

Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 15

scientific article published on 01 March 2014

Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 16.

scientific article published in August 2017

Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 2.

scientific article

Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 21

scientific article published on 01 August 2017

Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 21q11.2-q21.1 and a literature review

scientific article

Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from ring chromosome 2 ⬇️

scientific article published on September 1, 2012

Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from ring chromosome 4 ⬇️

scientific article published on 01 June 2011

Prenatal diagnosis and molecular cytogenetic characterization of rec(10)dup(10p)inv(10)(p11.2q26.3) in a fetus associated with paternal pericentric inversion.

scientific article

Prenatal diagnosis and molecular cytogenetic characterization of chromosome 22q11.2 deletion syndrome associated with congenital heart defects.

scientific article

Prenatal diagnosis and molecular cytogenetic characterization of low-level mosaic trisomy 12 at amniocentesis associated with a favorable pregnancy outcome

scientific article published in April 2017

Prenatal diagnosis and molecular genetic analysis of short rib-polydactyly syndrome type III (Verma-Naumoff) in a second-trimester fetus with a homozygous splice site mutation in intron 4 in the NEK1 gene ⬇️

scientific article published on June 1, 2012

Prenatal diagnosis of 46,XX,DER(13;21)(Q10;Q10),+21 and transient abnormal myelopoiesis in a fetus with hepatosplenomegaly and spontaneous resolution of fetal ascites

scientific article published on 01 March 2009

Prenatal diagnosis of Fryns syndrome associated with a microdeletion at 8p23.1.

scientific article published on 01 October 2007

Prenatal diagnosis of X-linked myotubular myopathy

scientific article published on 01 February 2010

Prenatal diagnosis of a 0.7-Mb 17p13.3 microdeletion encompassing YWHAE and CRK but not PAFAH1B1 in a fetus without ultrasound abnormalities

scientific article published in February 2018

Prenatal diagnosis of a 1.6-Mb 4p16.3 interstitial microdeletion encompassing FGFRL1 and TACC3 associated with bilateral cleft lip and palate of Wolf-Hirschhorn syndrome facial dysmorphism and short long bones

scientific article published in December 2017

Prenatal diagnosis of a 4.9-Mb deletion of 10q11.21 --> q11.23 by array comparative genomic hybridization

scientific article published on 01 March 2010

Prenatal diagnosis of a de novo 17p13.1 microduplication in a fetus with ventriculomegaly and lissencephaly ⬇️

scientific article published on December 1, 2011

Prenatal diagnosis of a distal 3p deletion associated with fetoplacental chromosomal discrepancy and confined placental mosaicism detected by array comparative genomic hybridization

scientific article published in June 2013

Prenatal diagnosis of a familial 1q21.1-q21.2 microdeletion in a fetus with polydactyly of left foot on prenatal ultrasound

scientific article published on 01 October 2018

Prenatal diagnosis of a familial 5p14.3-p14.1 deletion encompassing CDH18, CDH12, PMCHL1, PRDM9 and CDH10 in a fetus with congenital heart disease on prenatal ultrasound

scientific article published on 01 October 2018

Prenatal diagnosis of a missense mutation of c.2279G>A, Gly760Glu in exon 37 of COL1A2 in a fetus with familial osteogenesis imperfecta type IV and favorable outcome

scientific article published on 01 March 2013

Prenatal diagnosis of an acardiac amorphous twin and the anomalous co-twin in a monoamniotic twin pregnancy

scientific article published on 01 July 2005

Prenatal diagnosis of an interstitial deletion of 10q (10q11.21 → q21.1): array comparative genomic hybridization characterization and literature review

scientific article

Prenatal diagnosis of concomitant Wolf-Hirschhorn syndrome and split hand-foot malformation associated with partial monosomy 4p (4p16.1-->pter) and partial trisomy 10q (10q25.1-->qter)

scientific article published on 01 May 2008

Prenatal diagnosis of congenital chylothorax associated with de novopartial trisomy 12q (12q21.2-->qter)

scientific article published on 01 August 2006

Prenatal diagnosis of de novo interstitial deletions involving 5q23.1-q23.3 and 18q12.1-q12.3 by array CGH using uncultured amniocytes in a pregnancy with fetal interrupted aortic arch and atrial septal defect

scientific article published on 11 September 2013

Prenatal diagnosis of de novo monosomy 7q33-qter associated with hydrops fetalis, semilobar holoprosencephaly, and premaxillary dysgenesis

scientific article published in December 2013

Prenatal diagnosis of de novo partial trisomy 13q (13q22 --> qter) and partial monosomy 8p (8p23.3 --> pter) associated with holoprosencephaly, premaxillary agenesis, hexadactyly, and a hypoplastic left heart

scientific article published on 01 April 2005

Prenatal diagnosis of de novo proximal interstitial deletion of 9q and review of the literature of uncommon aneuploidies associated with increased nuchal translucency

scientific article

Prenatal diagnosis of de novo t(2;18;14)(q33.1;q12.2;q31.2), dup(5)(q34q34), del(7)(p21.1p21.1), and del(10)(q25.3q25.3) and a review of the prenatally ascertained de novo apparently balanced complex and multiple chromosomal rearrangements

scientific article published in February 2006

Prenatal diagnosis of de novo terminal deletion of chromosome 7q ⬇️

scientific article published on May 1, 2003

Prenatal diagnosis of familial transmission of 17q12 microduplication associated with no apparent phenotypic abnormality.

scientific article published in December 2016

Prenatal diagnosis of hydrancephaly and enlarged cerebellum and cisterna magna in a fetus with thanatophoric dysplasia type II and a review of prenatal diagnosis of brain anomalies associated with thanatophoric dysplasia

scientific article published in February 2018

Prenatal diagnosis of hypomethylation at KvDMR1 and Beckwith-Wiedemann syndrome in a pregnancy conceived by intracytoplasmic sperm injection and in vitro fertilization and embryo transfer

scientific article published on 01 March 2014

Prenatal diagnosis of interstitially satellited 6p.

scientific article published in June 2004

Prenatal diagnosis of low-level mosaic tetrasomy 9p by amniocentesis

scientific article published on 01 April 2007

Prenatal diagnosis of low-level mosaic trisomy 6 by amniocentesis

scientific article published on 01 November 2006

Prenatal diagnosis of low-level mosaic trisomy 7 by amniocentesis

scientific article published on 01 November 2005

Prenatal diagnosis of low-level mosaicism for a small XIST-negative supernumerary ring X chromosome in a nondysmorphic male fetus

scientific article published on 01 April 2006

Prenatal diagnosis of low-level mosaicism for trisomy 12 associated with a favorable pregnancy outcome.

scientific article

Prenatal diagnosis of low-level mosaicism for trisomy 18 associated with a favorable fetal outcome.

scientific article

Prenatal diagnosis of microvillus inclusion disease ⬇️

scientific article published on 01 September 2011

Prenatal diagnosis of mosaic 1q31.3q32.1 trisomy associated with occipital encephalocele

scientific article published on 01 September 2008

Prenatal diagnosis of mosaic 22q11.2 microdeletion

scientific article published on 01 August 2004

Prenatal diagnosis of mosaic ring chromosome 22 associated with cardiovascular abnormalities and intrauterine growth restriction

scientific article published on 01 January 2003

Prenatal diagnosis of mosaic small supernumerary marker chromosome 17 associated with ventricular septal defect, developmental delay, and speech delay

scientific article published in June 2016

Prenatal diagnosis of mosaic tetrasomy 18p

scientific article published on 01 December 2012

Prenatal diagnosis of mosaic trisomy 16 associated with congenital diaphragmatic hernia and elevated maternal serum alpha-fetoprotein and human chorionic gonadotrophin

scientific article published on 01 January 2004

Prenatal diagnosis of mosaic trisomy 2 associated with abnormal maternal serum screening, oligohydramnios, intrauterine growth restriction, ventricular septal defect, preaxial polydactyly, and facial dysmorphism

scientific article published in September 2013

Prenatal diagnosis of mosaic trisomy 2: discrepancy between molecular cytogenetic analyses of uncultured amniocytes and karyotyping of cultured amniocytes in a pregnancy with severe fetal intrauterine growth restriction

scientific article published on 01 September 2011

Prenatal diagnosis of mosaic trisomy 8: Clinical report and literature review

scientific article (publication date: September 2011)

Prenatal diagnosis of mosaic trisomy 9

scientific article published on 01 December 2011

Prenatal diagnosis of mosaicism for trisomy 15 in a single colony at amniocentesis with a favorable fetal outcome

scientific article published on 01 April 2017

Prenatal diagnosis of mosaicism for trisomy 2 in a single colony at amniocentesis in a pregnancy with a favorable outcome

scientific article published on 01 August 2017

Prenatal diagnosis of partial monosomy 5p (5p15.1→pter) and partial trisomy 7p (7p15.2→pter) associated with cystic hygroma, abnormal skull development, and ventriculomegaly.

scientific article

Prenatal diagnosis of partial trisomy 10q (10q25.3-->qter) and partial monosomy 18q (18q23-->qter)

scientific article published on 01 November 2005

Prenatal diagnosis of partial trisomy 3q (3q27.3→qter) and partial monosomy 14q (14q31.3→qter) of paternal origin associated with fetal hypotonia, arthrogryposis, scoliosis and hyperextensible joints

scientific article published on 22 December 2012

Prenatal diagnosis of pentalogy of Cantrell associated with hypoplasia of the right upper limb and ectrodactyly

scientific article published on 01 January 2007

Prenatal diagnosis of pure distal 18q deletion

scientific article published on 01 February 2006

Prenatal diagnosis of recurrent autosomal dominant osteogenesis imperfecta associated with unaffected parents and paternal gonadal mosaicism

scientific article published in March 2013

Prenatal diagnosis of ring chromosome 2 with lissencephaly and 2p25.3 and 2q37.3 microdeletions detected using array comparative genomic hybridization

scientific article published on 9 February 2013

Prenatal diagnosis of short-rib polydactyly syndrome type III or short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) associated with compound heterozygous mutations in DYNC2H1 in a fetus

scientific article published in February 2018

Prenatal diagnosis of the distal 11q deletion and review of the literature

scientific article published on February 2004

Prenatal diagnosis of the hypoplastic right heart syndrome with sex chromosome pentasomy (49,XXXXY)

scientific article published on 01 March 2007

Prenatal diagnosis of trisomy 18p and distal 21q22.3 deletion

scientific article

Prenatal diagnosis of trisomy 8 mosaicism

scientific article published on 01 December 2012

Prenatal diagnosis, sonographic findings and molecular genetic analysis of a 46,XX/46,XY true hermaphrodite chimera

scientific article

Prenatal findings and molecular cytogenetic analyses of partial trisomy 12q (12q24.32-->qter) and partial monosomy 21q (21q22.2-->qter).

scientific article

Prenatal identification of a G338E mutation in FGFR2 in a fetus without sonographic appearance of craniosynostosis

Prenatal magnetic resonance imaging evaluation of a digynic triploid fetus

scientific article published on 01 September 2007

Prenatal ultrasound demonstration of scoliosis, absence of one rib, a radial club hand, congenital heart defects and absent stomach in a fetus with VACTERL association

scientific article published on 01 March 2012

Prenatal visualization of cebocephaly with a prominent nose in a second-trimester fetus with alobar holoprosencephaly and trisomy 13

scientific article published on 01 March 2008

Proteome Differences Between Male and Female Fetal Cells in Amniotic Fluid ⬇️

scientific article published on March 9, 2012

Pure partial monosomy 3p (3p25.3 → pter): Prenatal diagnosis and array comparative genomic hybridization characterization ⬇️

scientific article published on September 1, 2012

Rapid aneuploidy diagnosis by multiplex ligation-dependent probe amplification using uncultured amniocytes in pregnancy with major fetal structural abnormalities

scientific article published on 01 March 2012

Rapid aneuploidy diagnosis of trisomy 18 by array comparative genomic hybridization using uncultured amniocytes in a pregnancy with fetal arachnoid cyst detected in late second trimester ⬇️

scientific article published on 01 September 2012

Rapid detection of K650E mutation in FGFR3 using uncultured amniocytes in a pregnancy affected with fetal cloverleaf skull, occipital pseudoencephalocele, ventriculomegaly, straight short femurs, and thanatophoric dysplasia type II

scientific article published on 01 September 2013

Rapid detection of de novo P253R mutation in FGFR2 using uncultured amniocytes in a pregnancy affected by polyhydramnios, Blake's pouch cyst, and Apert syndrome

scientific article published on June 2013

Rapid diagnosis of pseudomosaicism in a case of Level II mosaicism for trisomy 5 in a single colony from an in situ culture of amniocytes and a review of mosaic trisomy 5 at amniocentesis

scientific article

Rapid genome-wide aneuploidy diagnosis using uncultured amniocytes and array comparative genomic hybridization in pregnancy with abnormal ultrasound findings detected in late second and third trimesters

scientific article published on 01 March 2010

Rapid positive confirmation of mosaicism for a small supernumerary marker chromosome as r(8) by interphase fluorescence in situ hybridization, quantitative fluorescent polymerase chain reaction, and array comparative genomic hybridization on uncultu

scientific article published on September 1, 2012

Rapid positive confirmation of trisomy 21 mosaicism at amniocentesis by interphase FISH, QF-PCR and aCGH on uncultured amniocytes ⬇️

scientific article published on 01 September 2012

Recurrent 2q13 microduplication encompassing MALL, NPHP1, RGPD6, and BUB1 associated with autism spectrum disorder, intellectual disability, and liver disorder

scientific article published on February 2017

Ring chromosome 21 presenting with sacrococcygeal teratoma: prenatal diagnosis, molecular cytogenetic characterization and literature review

scientific article published on 29 March 2013

Second trimester molecular diagnosis of a stop codon FGFR3 mutation in a type I thanatophoric dysplasia fetus following abnormal ultrasound findings

scientific article published on 01 August 2002

Second-trimester diagnosis of complete trisomy 9 associated with abnormal maternal serum screen results, open sacral spina bifida and congenital diaphragmatic hernia, and review of the literature

scientific article published in June 2004

Second-trimester molecular prenatal diagnosis of sporadic Apert syndrome following sonographic findings of mild ventriculomegaly and clenched hands mimicking trisomy 18.

scientific article published in March 2010

Short rib-polydactyly syndrome type II (Majewski): prenatal diagnosis, perinatal imaging findings and molecular analysis of the NEK1 gene.

scientific article published in March 2012

Spatiotemporal expression of SERPINE2 in the human placenta and its role in extravillous trophoblast migration and invasion

scientific article

Spectral karyotyping, fluorescence in situ hybridization and molecular genetic analysis of de novo partial trisomy 7p (7p15.1 --> pter) and partial monosomy 9p (9p22 --> pter)

scientific article published on 01 December 2005

Successful triplet pregnancy and delivery after oocyte donation in an infertile female with chromosome mosaicism for monosomy X, partial trisomy X, and terminal Xp deletion ⬇️

scientific article published on May 1, 2003

Terminal 2q deletion and distal 15q duplication: prenatal diagnosis by array comparative genomic hybridization using uncultured amniocytes

scientific article published on 01 December 2009

Third-trimester 3D ultrasound evaluation of thanatophoric dysplasia type I

scientific article published on 01 September 2007

Trisomy 13 mosaicism associated with cyclopia and cystic hygroma

scientific article published on 01 December 2009

Trisomy 7 mosaicism at amniocentesis: interphase FISH, QF-PCR, and aCGH analyses on uncultured amniocytes for rapid distinguishing of true mosaicism from pseudomosaicism.

scientific article published in March 2012

Unbalanced and balanced acrocentric rearrangements involving chromosomes other than chromosome 21 at amniocentesis

scientific article published on 01 December 2009

Unbalanced and balanced heterologous acrocentric rearrangements involving chromosome 21 at amniocentesis

scientific article published on 01 March 2010

Unbalanced reciprocal translocations at amniocentesis ⬇️

scientific article published on 01 March 2011

Uncomplicated vaginal delivery in two consecutive pregnancies carried to term in a woman with osteogenesis imperfecta type I and bisphosphonate treatment before conception ⬇️

scientific article published on 01 June 2012

Usefulness of interphase FISH on uncultured amniocytes for rapid confirmation of low-level trisomy 7 mosaicism in a pregnancy with fetal intrauterine growth restriction and microcephaly ⬇️

scientific article published on September 1, 2012

VACTERL association with hydrocephalus in a fetus conceived by in vitro fertilization and embryo transfer

scientific article published on December 2013

WITHDRAWN: Corrigendum to "Ring chromosome 21 presenting with sacrococcygeal teratoma: Prenatal diagnosis, molecular cytogenetic characterization and literature review" [Gene 522 (2013) 111-116].

retracted scientific article published on 20 June 2013

Wolf-Hirschhorn (4p-) syndrome: Prenatal diagnosis, molecular cytogenetic characterization and association with a 1.2-Mb microduplication at 8p22-p21.3 and a 1.1-Mb microduplication at 10p15.3 in a fetus with an apparently pure 4p deletion ⬇️

scientific article published on 01 December 2011

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