Schu-Rern Chern

Schu-Rern Chern

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Schu-Rern Chern

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Prenatal diagnosis of low-level mosaic trisomy 17 with maternal uniparental disomy 17 by amniocentesis in a pregnancy with a favorable outcome.

Taiwan J Obstet Gynecol 2020 Mar;59(2):301-305

Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2020.01.021DOI Listing
March 2020

Monozygotic twins discordant for low-level mosaic trisomy 17 at amniocentesis in a pregnancy with a favorable outcome and a literature review of heterokaryotypic monozygotic twins at amniocentesis.

Taiwan J Obstet Gynecol 2020 Mar;59(2):306-313

Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2020.01.022DOI Listing
March 2020

Prenatal diagnosis of low-level mosaic trisomy 20 by amniocentesis in a pregnancy with a favorable outcome.

Taiwan J Obstet Gynecol 2020 Mar;59(2):327-330

Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2020.01.026DOI Listing
March 2020

Prenatal diagnosis of mosaicism for trisomy 11 in a single colony at amniocentesis in a pregnancy with a favorable outcome.

Taiwan J Obstet Gynecol 2020 Mar;59(2):331-333

Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2020.01.027DOI Listing
March 2020

Prenatal diagnosis of mosaicism for a distal 5p deletion in a single colony at amniocentesis in a pregnancy with a favorable outcome and a review of mosaic distal 5p deletion.

Taiwan J Obstet Gynecol 2020 Mar;59(2):334-337

Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2020.01.028DOI Listing
March 2020

Prenatal diagnosis of mosaic trisomy 8 by amniocentesis in a fetus with ventriculomegaly and dysgenesis of the corpus callosum.

Taiwan J Obstet Gynecol 2020 Jan;59(1):127-129

Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2019.11.020DOI Listing
January 2020

Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for r(13), monosomy 13 and idic r(13) by amniocentesis.

Taiwan J Obstet Gynecol 2020 Jan;59(1):130-134

Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2019.11.021DOI Listing
January 2020

Prenatal diagnosis of concomitant distal 5q duplication and terminal 10q deletion in a fetus with intrauterine growth restriction, congenital diaphragmatic hernia and congenital heart defects.

Taiwan J Obstet Gynecol 2020 Jan;59(1):135-139

Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2019.11.022DOI Listing
January 2020

Prenatal diagnosis and molecular cytogenetic characterization of de novo distal 5p deletion and distal 22q duplication.

Taiwan J Obstet Gynecol 2020 Jan;59(1):140-145

Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2019.11.023DOI Listing
January 2020

Cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes in mosaic double trisomy involving trisomy 7 and trisomy 20 (48,XY,+7,+20) at amniocentesis.

Taiwan J Obstet Gynecol 2020 Jan;59(1):146-149

Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2019.11.024DOI Listing
January 2020

Prenatal diagnosis of mosaicism for trisomy 7 in a single colony at amniocentesis in a pregnancy with a favorable outcome.

Taiwan J Obstet Gynecol 2019 Nov;58(6):852-854

Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2019.09.022DOI Listing
November 2019

Mosaic isochromosome 20q at amniocentesis: Prenatal diagnosis, genetic counseling and literature review.

Taiwan J Obstet Gynecol 2019 Nov;58(6):855-858

Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2019.08.002DOI Listing
November 2019

Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 3.

Taiwan J Obstet Gynecol 2019 Nov;58(6):864-868

Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2019.09.023DOI Listing
November 2019

Detection of a familial 21q22.3 microduplication in a fetus associated with congenital heart defects.

Taiwan J Obstet Gynecol 2019 Nov;58(6):869-871

Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2019.09.024DOI Listing
November 2019

Mosaic trisomy 22 at amniocentesis: Prenatal diagnosis and literature review.

Taiwan J Obstet Gynecol 2019 Sep;58(5):692-697

Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2019.07.020DOI Listing
September 2019

Inv dup del(10p): Prenatal diagnosis and molecular cytogenetic characterization.

Taiwan J Obstet Gynecol 2019 Sep;58(5):698-703

Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2019.07.021DOI Listing
September 2019

Detection of de novo del(18)(q22.2) and a familial of 15q13.2-q13.3 microduplication in a fetus with congenital heart defects.

Taiwan J Obstet Gynecol 2019 Sep;58(5):704-708

Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2019.07.022DOI Listing
September 2019

Digynic triploidy in a fetus presenting with semilobar holoprosencephaly.

Taiwan J Obstet Gynecol 2018 Dec;57(6):881-884

Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2018.11.001DOI Listing
December 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.

Taiwan J Obstet Gynecol 2018 Oct;57(5):734-738

Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2018.08.023DOI Listing
October 2018

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

Taiwan J Obstet Gynecol 2018 Oct;57(5):739-744

Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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https://linkinghub.elsevier.com/retrieve/pii/S10284559183019
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http://dx.doi.org/10.1016/j.tjog.2018.08.024DOI Listing
October 2018

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

Taiwan J Obstet Gynecol 2018 Oct;57(5):769-771

Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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https://linkinghub.elsevier.com/retrieve/pii/S10284559183019
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http://dx.doi.org/10.1016/j.tjog.2018.08.032DOI Listing
October 2018

Prenatal diagnosis of a 3.2-Mb 2p16.1-p15 duplication associated with familial intellectual disability.

Taiwan J Obstet Gynecol 2018 Aug;57(4):578-582

Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2018.06.018DOI Listing
August 2018

A 17-year-old boy with Klinefelter syndrome presenting Marfan syndrome-like clinical features of tall stature, scoliosis, arachnodactyly and subluxation of bilateral elbow joints.

Taiwan J Obstet Gynecol 2018 08;57(4):608-610

Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2018.06.025DOI Listing
August 2018

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.

Taiwan J Obstet Gynecol 2018 Feb;57(1):119-122

Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2017.12.020DOI Listing
February 2018

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.

Taiwan J Obstet Gynecol 2018 Feb;57(1):123-127

Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2017.12.021DOI Listing
February 2018

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

Taiwan J Obstet Gynecol 2018 Feb;57(1):128-132

Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2017.12.022DOI Listing
February 2018

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

Taiwan J Obstet Gynecol 2017 Dec;56(6):836-839

Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2017.10.024DOI Listing
December 2017

Prenatal diagnosis of low-level mosaicism for trisomy 13 at amniocentesis associated with a favorable outcome.

Taiwan J Obstet Gynecol 2017 Dec;56(6):840-842

Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2017.10.025DOI Listing
December 2017

Prenatal diagnosis of an 8q22.2-q23.3 deletion associated with bilateral cleft lip and palate and intrauterine growth restriction on fetal ultrasound.

Taiwan J Obstet Gynecol 2017 Dec;56(6):843-846

Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2017.10.026DOI Listing
December 2017

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

Taiwan J Obstet Gynecol 2017 Dec;56(6):847-851

Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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https://linkinghub.elsevier.com/retrieve/pii/S10284559173026
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http://dx.doi.org/10.1016/j.tjog.2017.10.027DOI Listing
December 2017

Fetoplacental cytogenetic discrepancy in a pregnancy with fetal mosaic tetrasomy 12p and Pallister-Killian syndrome detected by amniocentesis.

Taiwan J Obstet Gynecol 2017 Dec;56(6):852-856

Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2017.10.034DOI Listing
December 2017

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

Taiwan J Obstet Gynecol 2017 Oct;56(5):691-693

Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2017.09.001DOI Listing
October 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.

Taiwan J Obstet Gynecol 2017 Aug;56(4):527-533

Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2017.06.002DOI Listing
August 2017

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

Taiwan J Obstet Gynecol 2017 Aug;56(4):545-549

Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2017.05.004DOI Listing
August 2017

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

Taiwan J Obstet Gynecol 2017 Aug;56(4):550-553

Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2017.06.003DOI Listing
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.

Taiwan J Obstet Gynecol 2017 Aug;56(4):554-557

Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2017.06.004DOI Listing
August 2017

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

Taiwan J Obstet Gynecol 2017 Aug;56(4):566-568

Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2017.05.006DOI Listing
August 2017

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

Taiwan J Obstet Gynecol 2017 Aug;56(4):569-570

Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2017.05.007DOI Listing
August 2017

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.

Taiwan J Obstet Gynecol 2017 Jun;56(3):390-393

Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2017.04.024DOI Listing
June 2017

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

Taiwan J Obstet Gynecol 2017 Jun;56(3):394-397

Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2017.04.025DOI Listing
June 2017

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

Taiwan J Obstet Gynecol 2017 Jun;56(3):412-414

Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2017.04.030DOI Listing
June 2017

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

Taiwan J Obstet Gynecol 2017 Apr;56(2):230-233

Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2017.01.003DOI Listing
April 2017

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

Taiwan J Obstet Gynecol 2017 Apr;56(2):234-237

Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2017.01.004DOI Listing
April 2017

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

Taiwan J Obstet Gynecol 2017 Apr;56(2):238-242

Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2017.01.005DOI Listing
April 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.

Taiwan J Obstet Gynecol 2017 Apr;56(2):264-267

Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2017.01.006DOI Listing
April 2017

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

Taiwan J Obstet Gynecol 2017 Apr;56(2):268-269

Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2017.01.007DOI Listing
April 2017

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.

Taiwan J Obstet Gynecol 2017 Feb;56(1):87-92

Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2016.12.013DOI Listing
February 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.

Taiwan J Obstet Gynecol 2017 Feb;56(1):93-97

Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2016.12.002DOI Listing
February 2017

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

Taiwan J Obstet Gynecol 2017 Feb;56(1):98-101

Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2016.12.003DOI Listing
February 2017

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.

Taiwan J Obstet Gynecol 2016 Dec;55(6):852-855

Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2016.08.002DOI Listing
December 2016

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

Taiwan J Obstet Gynecol 2016 Dec;55(6):871-873

Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2016.08.004DOI Listing
December 2016

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.

Taiwan J Obstet Gynecol 2016 Dec;55(6):897-899

Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2016.08.005DOI Listing
December 2016

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

Taiwan J Obstet Gynecol 2016 Dec;55(6):900-901

Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2016.08.006DOI Listing
December 2016

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

Taiwan J Obstet Gynecol 2016 Dec;55(6):902-903

Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2016.10.001DOI Listing
December 2016

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

Taiwan J Obstet Gynecol 2016 Oct;55(5):712-717

Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2016.07.006DOI Listing
October 2016

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

Taiwan J Obstet Gynecol 2016 Oct;55(5):728-732

Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2016.06.017DOI Listing
October 2016

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

Taiwan J Obstet Gynecol 2016 Oct;55(5):733-737

Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2016.07.007DOI Listing
October 2016

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.

Taiwan J Obstet Gynecol 2016 Aug;55(4):591-5

Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2016.06.014DOI Listing
August 2016

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.

Taiwan J Obstet Gynecol 2016 Aug;55(4):596-601

Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2016.06.008DOI Listing
August 2016

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.

Taiwan J Obstet Gynecol 2016 Aug;55(4):602-3

Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2016.05.005DOI Listing
August 2016

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

Taiwan J Obstet Gynecol 2016 Jun;55(3):415-8

Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2016.05.001DOI Listing
June 2016

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

Taiwan J Obstet Gynecol 2016 Jun;55(3):419-22

Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2016.05.002DOI Listing
June 2016

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

Taiwan J Obstet Gynecol 2016 Jun;55(3):455-6

Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2016.05.003DOI Listing
June 2016

Prenatal diagnosis and molecular cytogenetic characterization of a de novo 4.858-Mb microdeletion in 15q14 associated with ACTC1 and MEIS2 haploinsufficiency and tetralogy of Fallot.

Taiwan J Obstet Gynecol 2016 Apr;55(2):270-4

Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2016.02.013DOI Listing
April 2016

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

Taiwan J Obstet Gynecol 2016 Apr;55(2):285-7

Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2016.02.014DOI Listing
April 2016

Prenatal diagnosis and molecular cytogenetic characterization of de novo partial monosomy 3p (3p26.3→pter) and partial trisomy 16q (16q23.1→qter).

Taiwan J Obstet Gynecol 2016 Apr;55(2):288-92

Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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April 2016

Prenatal diagnosis of low-level mosaicism for trisomy 2 associated with a favorable pregnancy outcome.

Taiwan J Obstet Gynecol 2016 Apr;55(2):303-4

Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2016.03.001DOI Listing
April 2016

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

Taiwan J Obstet Gynecol 2015 Aug;54(4):426-31

Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2015.06.002DOI Listing
August 2015

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

Taiwan J Obstet Gynecol 2015 Jun;54(3):297-302

Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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June 2015

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

Taiwan J Obstet Gynecol 2015 Apr;54(2):194-5

Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2015.01.001DOI Listing
April 2015

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.

Taiwan J Obstet Gynecol 2015 Feb;54(1):58-61

Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2014.12.002DOI Listing
February 2015

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

Taiwan J Obstet Gynecol 2015 Feb;54(1):78-80

Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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February 2015

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

Taiwan J Obstet Gynecol 2014 Dec;53(4):566-71

Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2014.09.004DOI Listing
December 2014

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

Taiwan J Obstet Gynecol 2014 Dec;53(4):572-8

Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2014.10.001DOI Listing
December 2014

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

Taiwan J Obstet Gynecol 2014 Dec;53(4):583-7

Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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December 2014

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

Taiwan J Obstet Gynecol 2014 Mar;53(1):68-73

Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2013.10.036DOI Listing
March 2014

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.

Taiwan J Obstet Gynecol 2014 Mar;53(1):74-8

Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2013.10.037DOI Listing
March 2014

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

Taiwan J Obstet Gynecol 2014 Mar;53(1):79-85

Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2013.12.002DOI Listing
March 2014

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.

Taiwan J Obstet Gynecol 2014 Mar;53(1):90-4

Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2013.12.003DOI Listing
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.

Taiwan J Obstet Gynecol 2014 Mar;53(1):120-2

Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2013.11.001DOI Listing
March 2014

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

Taiwan J Obstet Gynecol 2014 Mar;53(1):123-5

Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2013.11.002DOI Listing
March 2014

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

Taiwan J Obstet Gynecol 2014 Mar;53(1):126-8

Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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March 2014

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

Taiwan J Obstet Gynecol 2014 Mar;53(1):129-32

Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2013.12.004DOI Listing
March 2014

First-trimester sonographic demonstration of digynic triploidy.

Taiwan J Obstet Gynecol 2013 Dec;52(4):613-5

Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2013.10.033DOI Listing
December 2013