Article
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.
Taiwanese journal of obstetrics & gynecology - 1 Feb 2017
Chen Chih-Ping, Lin Shuan-Pei, Lee Chung-Lin, Chern Schu-Rern, Wu Peih-Shan, Chen Yen-Ni, Chen Shin-Wen, Wang Wayseen
Abstract excerpt
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 maternal serum screening result of Down syndrome risk of 1/226. Her husband was 31 years old. She and her husband...
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