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-Reference-Cited by-同舟云学术

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

Published:2018-10 Issue:5 Volume:57 Page:730-733
ISSN:1028-4559
Container-title:Taiwanese Journal of Obstetrics and Gynecology
language:en
Short-container-title:Taiwanese Journal of Obstetrics and Gynecology

Author:

Chen Chih-Ping,Chang Shu-Yuan,Wang Liang-Kai,Chang Tung-Yao,Chern Schu-Rern,Wu Peih-Shan,Chen Shin-Wen,Lai Shih-Ting,Chuang Tzu-Yun,Yang Chien-Wen,Town Dai-Dyi,Chen Li-Feng,Wang Wayseen

Funder

Ministry of Science and Technology

MacKay Memorial Hospital, Taipei, Taiwan

Publisher

Elsevier BV

Subject

Obstetrics and Gynecology

Reference25 articles.

1. Detection of a novel familial deletion of four genes between BP1 and BP2 of the Prader-Willi/Angelman syndrome critical region by oligo-array CGH in a child with neurological disorder and speech impairment;Murthy;Cytogenet Genome Res,2007

2. Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioural disturbances;Doornbos;Eur J Med Genet,2009

3. Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies;de Kovel;Brain,2010

4. Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay;Burnside;Hum Genet,2011

5. 15q11.2 microdeletion–Seven new patients with delayed development and/or behavioural problems;von der Lippe;Eur J Med Genet,2011

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