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-Reference-Cited by-同舟云学术

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

Published:2017-06 Issue:3 Volume:56 Page:385-389
ISSN:1028-4559
Container-title:Taiwanese Journal of Obstetrics and Gynecology
language:en
Short-container-title:Taiwanese Journal of Obstetrics and Gynecology

Author:

Chen Chih-Ping,Yip Hoi-Kin,Wang Liang-Kai,Chern Schu-Rern,Chen Shin-Wen,Lai Shih-Ting,Wu Peih-Shan,Wang Wayseen

Funder

Ministry of Science and Technology

MacKay Memorial Hospital, Taipei, Taiwan

Publisher

Elsevier BV

Subject

Obstetrics and Gynecology

Reference14 articles.

1. Partial duplications of the ATRX gene cause the ATR-X syndrome;Thienpont;Eur J Hum Genet,2007

2. Partial ATRX gene duplication causes ATR-X syndrome;Cohn;Am J Med Genet,2009

3. Insertional translocation into the X-chromosome of a 46.XY male;Sparkes;Clin Genet,1977

4. Tandem duplication dup(X)(q13q22) in a male proband inherited from the mother showing mosaicism of X-inactivation;Steinbach;Hum Genet,1980

5. Inherited tandem duplication dup(X)(q131–q212) in a male proband;Vejerslev;Clin Genet,1985

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1. Clinical findings in individuals with duplication of genes associated with X‐linked intellectual disability;Clinical Genetics;2023-10-29

2. Case report: 7p22.3 deletion and 8q24.3 duplication in a patient with epilepsy and psychomotor delay—Does both possibly act to modulate a candidate gene region for the patient’s phenotype?;Frontiers in Genetics;2023-01-09