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...

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Main Authors: Chih-Ping Chen (Author), Shuan-Pei Lin (Author), Chung-Lin Lee (Author), Schu-Rern Chern (Author), Peih-Shan Wu (Author), Yen-Ni Chen (Author), Shin-Wen Chen (Author), Wayseen Wang (Author)
Format: Book
Published: Elsevier, 2017-02-01T00:00:00Z.
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