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 EXT1

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 EXT1

Objective: The aim of this research was to present prenatal diagnosis of Langer-Giedion syndrome (LGS/TRPS type II) and Cornelia de Lange syndrome-4 (CDLS4). Materials and methods: A 36-year-old woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Conventional cyt...

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Bibliographic Details
Main Authors: Chih-Ping Chen, Ming-Huei Lin, Yi-Yung Chen, Schu-Rern Chern, Yen-Ni Chen, Peih-Shan Wu, Chen-Wen Pan, Meng-Shan Lee, Wayseen Wang
Format: Article
Language:English
Published: Elsevier 2015-10-01
Series:Taiwanese Journal of Obstetrics & Gynecology
Subjects:
8q23.3–q24.13 deletion
Cornelia de Lange syndrome-4
EXT1
Langer-Giedion syndrome
RAD21
TRPS1
Online Access:http://www.sciencedirect.com/science/article/pii/S1028455915001710

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