Prenatal diagnosis of a 3.2-Mb 2p16.1-p15 duplication associated with familial intellectual disability

Objective: We present prenatal diagnosis of a 2p16.1-p15 duplication associated with familial intellectual disability, and we discuss the genotype–phenotype correlation. Case report: A 22-year-old, primigravid woman underwent amniocentesis at 22 weeks of gestation because of a family history of inte...

Full description

Bibliographic Details
Main Authors: Chih-Ping Chen, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Shih-Ting Lai, Tzu-Yun Chuang, Wen-Lin Chen, Chien-Wen Yang, Wayseen Wang
Format: Article
Language:English
Published: Elsevier 2018-08-01
Series:Taiwanese Journal of Obstetrics & Gynecology
Online Access:http://www.sciencedirect.com/science/article/pii/S1028455918301360
id doaj-60ee999409744c8492fa68b89de51aa0
record_format Article
spelling doaj-60ee999409744c8492fa68b89de51aa02020-11-24T21:17:19ZengElsevierTaiwanese Journal of Obstetrics & Gynecology1028-45592018-08-01574578582Prenatal diagnosis of a 3.2-Mb 2p16.1-p15 duplication associated with familial intellectual disabilityChih-Ping Chen0Schu-Rern Chern1Peih-Shan Wu2Shin-Wen Chen3Shih-Ting Lai4Tzu-Yun Chuang5Wen-Lin Chen6Chien-Wen Yang7Wayseen Wang8Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Biotechnology, Asia University, Taichung, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang-Ming University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang-Ming University, Taipei, Taiwan; Corresponding author. Department of Obstetrics and Gynecology, MacKay Memorial Hospital, 92, Section 2, Chung-Shan North Road, Taipei 10449, Taiwan. Fax: +886 2 25433642, +886 2 25232448.Department of Medical Research, MacKay Memorial Hospital, Taipei, TaiwanGene Biodesign Co. Ltd., Taipei, TaiwanDepartment of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, TaiwanDepartment of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, TaiwanDepartment of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, TaiwanDepartment of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, TaiwanDepartment of Medical Research, MacKay Memorial Hospital, Taipei, TaiwanDepartment of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, TaiwanObjective: We present prenatal diagnosis of a 2p16.1-p15 duplication associated with familial intellectual disability, and we discuss the genotype–phenotype correlation. Case report: A 22-year-old, primigravid woman underwent amniocentesis at 22 weeks of gestation because of a family history of intellectual disability. The woman and her two sisters had intellectual disability but no behavioral disorders. The intellectual disability was noted in at least one paternal aunt and six paternal cousins of the woman. Cytogenetic analysis revealed the karyotype of 46,XX in the fetus and the two women. Array comparative genomic hybridization (aCGH) analysis on the DNAs extracted from cultured amniocytes and the bloods of the woman and the her sister revealed a 3.244-Mb duplication of 2p16.1-p15 or arr 2p16.1p15 (58,288,588–61,532,538) × 3.0 [GRCh37 (hg19)] encompassing eight Online Mendelian Inheritance in Man (OMIM) genes of VRK2, FANCL, BCL11A, PAPOLG, REL, PUS10, PEX13 and USP34 in the fetus and the two women. Prenatal ultrasound findings were unremarkable. The woman elected to continue the pregnancy. A 3244-g female baby was delivered at term with neither craniofacial dysmorphism nor structural abnormalities. Conclusion: aCGH is useful in prenatal diagnosis of inherited subtle chromosome imbalance in pregnancy with familial intellectual disability. Chromosome 2p16.1-p15 duplication can be associated with intellectual disability. Keywords: 2p16.1-p15 duplication, BCL11A, Intellectual disabilityhttp://www.sciencedirect.com/science/article/pii/S1028455918301360
collection DOAJ
language English
format Article
sources DOAJ
author Chih-Ping Chen
Schu-Rern Chern
Peih-Shan Wu
Shin-Wen Chen
Shih-Ting Lai
Tzu-Yun Chuang
Wen-Lin Chen
Chien-Wen Yang
Wayseen Wang
spellingShingle Chih-Ping Chen
Schu-Rern Chern
Peih-Shan Wu
Shin-Wen Chen
Shih-Ting Lai
Tzu-Yun Chuang
Wen-Lin Chen
Chien-Wen Yang
Wayseen Wang
Prenatal diagnosis of a 3.2-Mb 2p16.1-p15 duplication associated with familial intellectual disability
Taiwanese Journal of Obstetrics & Gynecology
author_facet Chih-Ping Chen
Schu-Rern Chern
Peih-Shan Wu
Shin-Wen Chen
Shih-Ting Lai
Tzu-Yun Chuang
Wen-Lin Chen
Chien-Wen Yang
Wayseen Wang
author_sort Chih-Ping Chen
title Prenatal diagnosis of a 3.2-Mb 2p16.1-p15 duplication associated with familial intellectual disability
title_short Prenatal diagnosis of a 3.2-Mb 2p16.1-p15 duplication associated with familial intellectual disability
title_full Prenatal diagnosis of a 3.2-Mb 2p16.1-p15 duplication associated with familial intellectual disability
title_fullStr Prenatal diagnosis of a 3.2-Mb 2p16.1-p15 duplication associated with familial intellectual disability
title_full_unstemmed Prenatal diagnosis of a 3.2-Mb 2p16.1-p15 duplication associated with familial intellectual disability
title_sort prenatal diagnosis of a 3.2-mb 2p16.1-p15 duplication associated with familial intellectual disability
publisher Elsevier
series Taiwanese Journal of Obstetrics & Gynecology
issn 1028-4559
publishDate 2018-08-01
description Objective: We present prenatal diagnosis of a 2p16.1-p15 duplication associated with familial intellectual disability, and we discuss the genotype–phenotype correlation. Case report: A 22-year-old, primigravid woman underwent amniocentesis at 22 weeks of gestation because of a family history of intellectual disability. The woman and her two sisters had intellectual disability but no behavioral disorders. The intellectual disability was noted in at least one paternal aunt and six paternal cousins of the woman. Cytogenetic analysis revealed the karyotype of 46,XX in the fetus and the two women. Array comparative genomic hybridization (aCGH) analysis on the DNAs extracted from cultured amniocytes and the bloods of the woman and the her sister revealed a 3.244-Mb duplication of 2p16.1-p15 or arr 2p16.1p15 (58,288,588–61,532,538) × 3.0 [GRCh37 (hg19)] encompassing eight Online Mendelian Inheritance in Man (OMIM) genes of VRK2, FANCL, BCL11A, PAPOLG, REL, PUS10, PEX13 and USP34 in the fetus and the two women. Prenatal ultrasound findings were unremarkable. The woman elected to continue the pregnancy. A 3244-g female baby was delivered at term with neither craniofacial dysmorphism nor structural abnormalities. Conclusion: aCGH is useful in prenatal diagnosis of inherited subtle chromosome imbalance in pregnancy with familial intellectual disability. Chromosome 2p16.1-p15 duplication can be associated with intellectual disability. Keywords: 2p16.1-p15 duplication, BCL11A, Intellectual disability
url http://www.sciencedirect.com/science/article/pii/S1028455918301360
work_keys_str_mv AT chihpingchen prenataldiagnosisofa32mb2p161p15duplicationassociatedwithfamilialintellectualdisability
AT schurernchern prenataldiagnosisofa32mb2p161p15duplicationassociatedwithfamilialintellectualdisability
AT peihshanwu prenataldiagnosisofa32mb2p161p15duplicationassociatedwithfamilialintellectualdisability
AT shinwenchen prenataldiagnosisofa32mb2p161p15duplicationassociatedwithfamilialintellectualdisability
AT shihtinglai prenataldiagnosisofa32mb2p161p15duplicationassociatedwithfamilialintellectualdisability
AT tzuyunchuang prenataldiagnosisofa32mb2p161p15duplicationassociatedwithfamilialintellectualdisability
AT wenlinchen prenataldiagnosisofa32mb2p161p15duplicationassociatedwithfamilialintellectualdisability
AT chienwenyang prenataldiagnosisofa32mb2p161p15duplicationassociatedwithfamilialintellectualdisability
AT wayseenwang prenataldiagnosisofa32mb2p161p15duplicationassociatedwithfamilialintellectualdisability
_version_ 1726012924686761984