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List of works by Shin-Wen Chen

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

scientific article published on 01 June 2016

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 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

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 hypomethylation of H19 in a pregnancy with limb-body wall complex

scientific article published on 01 October 2018

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 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

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

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 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

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

scientific article

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

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 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 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 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 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 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 low-level mosaic trisomy 12 at amniocentesis associated with a favorable pregnancy outcome

scientific article published in April 2017

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 familial 15q11.2 (BP1-BP2) microdeletion encompassing TUBGCP5, CYFIP1, NIPA2 and NIPA1 in a fetus with ventriculomegaly, microcephaly and intrauterine growth restriction on prenatal ultrasound

scientific article published on 01 October 2018

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 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 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 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 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 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

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

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

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