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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

Authors :
Chih-Ping Chen
Shuan-Pei Lin
Chung-Lin Lee
Schu-Rern Chern
Peih-Shan Wu
Yen-Ni Chen
Shin-Wen Chen
Wayseen Wang
Source :
Taiwanese Journal of Obstetrics & Gynecology, Vol 56, Iss 1, Pp 93-97 (2017)
Publication Year :
2017
Publisher :
Elsevier, 2017.

Abstract

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 were phenotypically normal, and there was no family history of mental disorders and congenital malformations. Amniocentesis revealed a karyotype of 46,XX. Prenatal ultrasound findings were unremarkable. A 2492-g female baby was delivered at 37 weeks of gestation uneventfully. During the subsequent pregnancy, the same woman at the age of 35 years underwent amniocentesis at 18 weeks of gestation because of advanced maternal age, which revealed a karyotype of 46,XY. Prenatal ultrasound findings were unremarkable. A 2780-g male baby was delivered at 37 weeks of gestation uneventfully. About 3 years after the birth of this boy, array comparative genomic hybridization of the family revealed 15q11.2 microdeletion encompassing NIPA1, NIPA2, CYFIP1, and TUBGCP5 in the two siblings, who displayed developmental, speech, and motor delay, and in their phenotypically normal father. Conclusion: Recurrent phenotypic abnormality in the family with normal karyotype at amniocentesis should include a differential diagnosis of familial pathogenic copy-number variations.

Details

Language :
English
ISSN :
10284559
Volume :
56
Issue :
1
Database :
Directory of Open Access Journals
Journal :
Taiwanese Journal of Obstetrics & Gynecology
Publication Type :
Academic Journal
Accession number :
edsdoj.745e3c62357b4651ace2028cbf8e7635
Document Type :
article
Full Text :
https://doi.org/10.1016/j.tjog.2016.12.002