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...
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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 |
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