Prenatal diagnosis of a de novo 15q11.2 microdeletion in a maternal inv(4)(p15q31) fetus with increased nuchal translucency

Medicine ◽

10.1097/md.0000000000022496 ◽

2020 ◽

Vol 99 (40) ◽

pp. e22496

Author(s):

Meiling Sun ◽

Fagui Yue ◽

Yang Yu ◽

Leilei Li ◽

Yuting Jiang ◽

...

Keyword(s):

Prenatal Diagnosis ◽

De Novo ◽

Nuchal Translucency ◽

Increased Nuchal Translucency

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Prenatal Diagnosis of a De Novo Partial Trisomy 17q Case Associated with Increased Nuchal Translucency, Hypoplastic Left Heart Syndrome, Cerebral Anomalies: Case Report

Turkiye Klinikleri Journal of Gynecology and Obstetrics ◽

10.5336/gynobstet.2014-40704 ◽

2016 ◽

Vol 26 (2) ◽

pp. 125-128

Author(s):

Mehmet TÜRE ◽

Şebnem ÖZEMRİ SAĞ ◽

Emine Tuna GÜLTEN ◽

Betül ESER ◽

Serdar ŞAHİNTÜRK ◽

...

Keyword(s):

Case Report ◽

Prenatal Diagnosis ◽

De Novo ◽

Partial Trisomy ◽

Nuchal Translucency ◽

Hypoplastic Left Heart ◽

Cerebral Anomalies ◽

Left Heart Syndrome ◽

Increased Nuchal Translucency

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Prenatal diagnosis of a 15q11.2-q14 deletion of paternal origin associated with increased nuchal translucency, mosaicism for de novo multiple unbalanced translocations involving 15q11-q14, 5qter, 15qter, 17pter and 3qter and Prader–Willi syndrome

Taiwanese Journal of Obstetrics and Gynecology ◽

10.1016/j.tjog.2021.01.012 ◽

2021 ◽

Vol 60 (2) ◽

pp. 335-340

Author(s):

Chih-Ping Chen ◽

Ming-Huei Lin ◽

Yi-Yung Chen ◽

Schu-Rern Chern ◽

Peih-Shan Wu ◽

...

Keyword(s):

Prenatal Diagnosis ◽

De Novo ◽

Nuchal Translucency ◽

Prader Willi Syndrome ◽

Paternal Origin ◽

Increased Nuchal Translucency

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De novo monosomy 9p24.3-pter and trisomy 17q24.3-qter characterised by microarray comparative genomic hybridisation in a fetus with an increased nuchal translucency

Prenatal Diagnosis ◽

10.1002/pd.1379 ◽

2006 ◽

Vol 26 (3) ◽

pp. 206-213 ◽

Author(s):

Sophie Brisset ◽

Serdar Kasakyan ◽

Aurore Coulomb L'Herminé ◽

Valérie Mairovitz ◽

Evelyne Gautier ◽

...

Keyword(s):

De Novo ◽

Nuchal Translucency ◽

Comparative Genomic Hybridisation ◽

Comparative Genomic ◽

Increased Nuchal Translucency

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Prenatal diagnosis of Dandy-Walker syndrome in early pregnancy presenting with increased nuchal translucency and generalized edema at 13 weeks of gestation

Prenatal Diagnosis ◽

10.1002/pd.610 ◽

2003 ◽

Vol 23 (6) ◽

pp. 514-515 ◽

Author(s):

Sheng Hsien Chen ◽

Mike Yan-Sheng Lin ◽

Fong-Ming Chang

Keyword(s):

Prenatal Diagnosis ◽

Early Pregnancy ◽

Nuchal Translucency ◽

Increased Nuchal Translucency

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Application of expanded noninvasive prenatal test in prenatal diagnosis of fetuses with increased nuchal translucency

The Journal of Maternal-Fetal & Neonatal Medicine ◽

10.1080/14767058.2021.1909564 ◽

2021 ◽

pp. 1-6

Author(s):

Xiaoxiao Xie ◽

Honghui Zhou ◽

Qingdong Zhao ◽

Yanping Lu ◽

Yuanguang Meng

Keyword(s):

Prenatal Diagnosis ◽

Nuchal Translucency ◽

Prenatal Test ◽

Increased Nuchal Translucency

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Prenatal diagnosis of Pallister Killian Syndrome in a fetus with congenital diaphragmatic hernia, short limbs, and increased nuchal translucency

Taiwanese Journal of Obstetrics and Gynecology ◽

10.1016/j.tjog.2013.06.015 ◽

2014 ◽

Vol 53 (3) ◽

pp. 404-405 ◽

Author(s):

Tülay Özlü ◽

Zeynep Ocak ◽

Osman Ozyurt

Keyword(s):

Prenatal Diagnosis ◽

Congenital Diaphragmatic Hernia ◽

Diaphragmatic Hernia ◽

Nuchal Translucency ◽

Increased Nuchal Translucency

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Del(18p) syndrome with increased nuchal translucency in prenatal diagnosis

Prenatal Diagnosis ◽

10.1002/pd.741 ◽

2004 ◽

Vol 24 (3) ◽

pp. 161-164 ◽

Author(s):

Young-Mi Kim ◽

Eun-Hee Cho ◽

Jin-Mi Kim ◽

Moon-Hee Lee ◽

So-Yeon Park ◽

...

Keyword(s):

Prenatal Diagnosis ◽

Nuchal Translucency ◽

Increased Nuchal Translucency

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First trimester prenatal diagnosis of 13q-syndrome presenting with increased nuchal translucency, Dandy-Walker malformation and small parietal encephalocoele

Prenatal Diagnosis ◽

10.1002/pd.1989 ◽

2008 ◽

Vol 28 (5) ◽

pp. 445-446 ◽

Author(s):

An Hindryckx ◽

Luc De Catte ◽

Hilde Van Esch ◽

Jean-Pierre Fryns ◽

Philippe Moerman ◽

...

Keyword(s):

Prenatal Diagnosis ◽

First Trimester ◽

Nuchal Translucency ◽

Dandy Walker Malformation ◽

Walker Malformation ◽

Increased Nuchal Translucency

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Prenatal diagnosis of fetal thanatophoric dysplasia type 1 with de novo c.2419T > G (p. Ter807Gly) (X807G) gene mutation in fibroblast growth factor receptor 3 (FGFR3) showing increased nuchal translucency at the first trimester of gestation: A case report with review of the literature

Journal of Molecular and Clinical Medicine ◽

10.31083/j.jmcm.2020.01.001 ◽

2020 ◽

Vol 3 (1) ◽

pp. 19

Keyword(s):

Fibroblast Growth Factor Receptor ◽

De Novo ◽

Growth Factor Receptor ◽

First Trimester ◽

Nuchal Translucency ◽

Fibroblast Growth ◽

Review Of The Literature ◽

Thanatophoric Dysplasia ◽

Increased Nuchal Translucency

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Osteogenesis imperfecta type VIII: Association with increased nuchal translucency and prenatal diagnosis by targeted exome sequencing

European Journal of Obstetrics & Gynecology and Reproductive Biology ◽

10.1016/j.ejogrb.2018.10.022 ◽

2019 ◽

Vol 235 ◽

pp. 128-129

Author(s):

Li Zhen ◽

Fan Jiang ◽

Dong-Zhi Li

Keyword(s):

Prenatal Diagnosis ◽

Osteogenesis Imperfecta ◽

Exome Sequencing ◽

Nuchal Translucency ◽

Osteogenesis Imperfecta Type ◽

Type Viii ◽

Targeted Exome Sequencing ◽

Increased Nuchal Translucency

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