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

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

Objective: We present recurrent 15q11.2 (BP1-BP2) microdeletion encompassing NIPA1, NIPA2, CYFIP1, and TUBGCP5 in a family with phenotypic variability in developmental, speech, and motor delay. Case Report: A 32-year-old woman underwent amniocentesis at 17 weeks of gestation because of an abnormal m...

Full description

Bibliographic Details
Main Authors: Chih-Ping Chen, Shuan-Pei Lin, Chung-Lin Lee, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Wayseen Wang
Format: Article
Language:English
Published: Elsevier 2017-02-01
Series:Taiwanese Journal of Obstetrics & Gynecology
Subjects:
15q11.2 (BP1-BP2) deletion
CYFIP1
NIPA1
NIPA2
TUBGCP5
Online Access:http://www.sciencedirect.com/science/article/pii/S1028455916302418

Internet

http://www.sciencedirect.com/science/article/pii/S1028455916302418

Similar Items