List of works - Chen-Chi Lee

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

scientific article published on April 8, 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 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

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

scientific article published on December 1, 2012

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

scientific article published on August 7, 2013

Balanced Reciprocal Translocations Detected at Amniocentesis ⬇️

scientific article published on 01 December 2010

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

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

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

scientific article published in April 2017

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

First-trimester sonographic demonstration of digynic triploidy

scientific article published in December 2013

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

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 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

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

scientific article published on 07 August 2013

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

scientific article published on September 2010

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 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

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 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 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 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 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 2.

scientific article

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

scientific article published on 01 March 2010

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 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 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 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 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 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 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 9

scientific article published on 01 December 2011

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

scientific article published on 01 November 2005

Prenatal diagnosis of pure distal 18q deletion

scientific article published on 01 February 2006

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 the distal 11q deletion and review of the literature

scientific article published on February 2004

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

scientific article

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

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

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

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

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

List of works by Chen-Chi Lee

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

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

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

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

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

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

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

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

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

Balanced Reciprocal Translocations Detected at Amniocentesis ⬇️

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

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

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

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

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

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

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 ⬇️

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

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

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

First-trimester sonographic demonstration of digynic triploidy

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Prenatal diagnosis and molecular cytogenetic characterization of mosaic ring chromosome 13 ⬇️

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

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

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

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

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)

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

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

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

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

Prenatal diagnosis of interstitially satellited 6p.

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

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

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

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

Prenatal diagnosis of mosaic 22q11.2 microdeletion

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

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

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

Prenatal diagnosis of mosaic trisomy 9

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

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

Prenatal diagnosis of pure distal 18q deletion

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

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

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

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

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

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

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

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)