Molecular genetic characterization of a prenatally detected 1.484-Mb Xq13.3-q21.1 duplication encompassing ATRX and a literature review of syndromic intellectual disability and congenital abnormalities in males with a duplication at Xq13.3-q21.1
Objective: We present prenatal diagnosis of dup(X)(q13.3q21.1) in a male fetus and molecular genetic analysis in three generations and a literature review of syndromic intellectual disability and congenital abnormalities in males with a duplication at Xq13.3-q21.1. Case report: A 35-year-old, primig...
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doaj-814f73d8104342d88de19b8eaeb5aa082020-11-25T00:48:03ZengElsevierTaiwanese Journal of Obstetrics & Gynecology1028-45592017-06-0156338538910.1016/j.tjog.2017.04.023Molecular genetic characterization of a prenatally detected 1.484-Mb Xq13.3-q21.1 duplication encompassing ATRX and a literature review of syndromic intellectual disability and congenital abnormalities in males with a duplication at Xq13.3-q21.1Chih-Ping Chen0Hoi-Kin Yip1Liang-Kai Wang2Schu-Rern Chern3Shin-Wen Chen4Shih-Ting Lai5Peih-Shan Wu6Wayseen Wang7Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, TaiwanDepartment of Obstetrics and Gynecology, Cardinal Tien Hospital, Xindian, New Taipei City, TaiwanDepartment of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, TaiwanDepartment of Medical Research, MacKay Memorial Hospital, Taipei, TaiwanDepartment of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, TaiwanDepartment of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, TaiwanGene Biodesign Co. Ltd, Taipei, TaiwanDepartment of Medical Research, MacKay Memorial Hospital, Taipei, TaiwanObjective: We present prenatal diagnosis of dup(X)(q13.3q21.1) in a male fetus and molecular genetic analysis in three generations and a literature review of syndromic intellectual disability and congenital abnormalities in males with a duplication at Xq13.3-q21.1. Case report: A 35-year-old, primigravid woman underwent amniocentesis at 18 weeks of gestation because of advanced maternal age. The woman and her mother were phenotypically normal, and there was no intellectual disability in the maternal family. Cytogenetic analysis of cultured amniocytes revealed a karyotype of 46,XY. Simultaneous array comparative genomic hybridization (aCGH) analysis on uncultured amniotic fluid incidentally detected a 1.484-Mb microduplication of Xq13.3-q21.1 encompassing ATRX. Subsequent aCGH analysis on fetal blood, maternal blood and grandmother's blood revealed the same 1.484-Mb dup(X)(q13.3q21.1). Prenatal ultrasound findings were unremarkable with no growth restriction and no short stature. After genetic counseling of syndromic intellectual disability in males with ATRX duplication, the woman elected to terminate the pregnancy. The fetus postnatally manifested hypoplastic male external genitalia, clinodactyly, hypertelorism, midface hypoplasia, epicanthic folds and micrognathia. Conclusion: Simultaneous aCGH analysis on uncultured amniotic fluid in addition to conventional cytogenetics at amniocentesis is practical and may help in detecting unknown familial inheritance of subtle X chromosome aberrations.http://www.sciencedirect.com/science/article/pii/S1028455917300931ATRXPrenatal diagnosisXq13.3-q21.1 duplicationXq duplication |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Chih-Ping Chen Hoi-Kin Yip Liang-Kai Wang Schu-Rern Chern Shin-Wen Chen Shih-Ting Lai Peih-Shan Wu Wayseen Wang |
spellingShingle |
Chih-Ping Chen Hoi-Kin Yip Liang-Kai Wang Schu-Rern Chern Shin-Wen Chen Shih-Ting Lai Peih-Shan Wu Wayseen Wang Molecular genetic characterization of a prenatally detected 1.484-Mb Xq13.3-q21.1 duplication encompassing ATRX and a literature review of syndromic intellectual disability and congenital abnormalities in males with a duplication at Xq13.3-q21.1 Taiwanese Journal of Obstetrics & Gynecology ATRX Prenatal diagnosis Xq13.3-q21.1 duplication Xq duplication |
author_facet |
Chih-Ping Chen Hoi-Kin Yip Liang-Kai Wang Schu-Rern Chern Shin-Wen Chen Shih-Ting Lai Peih-Shan Wu Wayseen Wang |
author_sort |
Chih-Ping Chen |
title |
Molecular genetic characterization of a prenatally detected 1.484-Mb Xq13.3-q21.1 duplication encompassing ATRX and a literature review of syndromic intellectual disability and congenital abnormalities in males with a duplication at Xq13.3-q21.1 |
title_short |
Molecular genetic characterization of a prenatally detected 1.484-Mb Xq13.3-q21.1 duplication encompassing ATRX and a literature review of syndromic intellectual disability and congenital abnormalities in males with a duplication at Xq13.3-q21.1 |
title_full |
Molecular genetic characterization of a prenatally detected 1.484-Mb Xq13.3-q21.1 duplication encompassing ATRX and a literature review of syndromic intellectual disability and congenital abnormalities in males with a duplication at Xq13.3-q21.1 |
title_fullStr |
Molecular genetic characterization of a prenatally detected 1.484-Mb Xq13.3-q21.1 duplication encompassing ATRX and a literature review of syndromic intellectual disability and congenital abnormalities in males with a duplication at Xq13.3-q21.1 |
title_full_unstemmed |
Molecular genetic characterization of a prenatally detected 1.484-Mb Xq13.3-q21.1 duplication encompassing ATRX and a literature review of syndromic intellectual disability and congenital abnormalities in males with a duplication at Xq13.3-q21.1 |
title_sort |
molecular genetic characterization of a prenatally detected 1.484-mb xq13.3-q21.1 duplication encompassing atrx and a literature review of syndromic intellectual disability and congenital abnormalities in males with a duplication at xq13.3-q21.1 |
publisher |
Elsevier |
series |
Taiwanese Journal of Obstetrics & Gynecology |
issn |
1028-4559 |
publishDate |
2017-06-01 |
description |
Objective: We present prenatal diagnosis of dup(X)(q13.3q21.1) in a male fetus and molecular genetic analysis in three generations and a literature review of syndromic intellectual disability and congenital abnormalities in males with a duplication at Xq13.3-q21.1.
Case report: A 35-year-old, primigravid woman underwent amniocentesis at 18 weeks of gestation because of advanced maternal age. The woman and her mother were phenotypically normal, and there was no intellectual disability in the maternal family. Cytogenetic analysis of cultured amniocytes revealed a karyotype of 46,XY. Simultaneous array comparative genomic hybridization (aCGH) analysis on uncultured amniotic fluid incidentally detected a 1.484-Mb microduplication of Xq13.3-q21.1 encompassing ATRX. Subsequent aCGH analysis on fetal blood, maternal blood and grandmother's blood revealed the same 1.484-Mb dup(X)(q13.3q21.1). Prenatal ultrasound findings were unremarkable with no growth restriction and no short stature. After genetic counseling of syndromic intellectual disability in males with ATRX duplication, the woman elected to terminate the pregnancy. The fetus postnatally manifested hypoplastic male external genitalia, clinodactyly, hypertelorism, midface hypoplasia, epicanthic folds and micrognathia.
Conclusion: Simultaneous aCGH analysis on uncultured amniotic fluid in addition to conventional cytogenetics at amniocentesis is practical and may help in detecting unknown familial inheritance of subtle X chromosome aberrations. |
topic |
ATRX Prenatal diagnosis Xq13.3-q21.1 duplication Xq duplication |
url |
http://www.sciencedirect.com/science/article/pii/S1028455917300931 |
work_keys_str_mv |
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