Inherited tandem duplication dup(X) (q131-q212) in a male proband
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1985.tb00220.x/fullpdf
Reference11 articles.
1. Female phenotype and multiple abnormalities in sibs with a Y chromosome and partial X chromosome duplication: H-Y antigen and Xg blood group findings;Bernstein;J. Med. Genet.,1980
2. Inherited partial X chromosome duplication in a mentally retarded male;Brøndum Nielsen;J. Med. Genet.,1982
3. X-inactivation patterns in lymphocytes and skin fibroblasts of three cases of X-autosome translocations with abnormal phenotypes;Disteche;Hum. Genet.,1984
4. Coloration des chromosomes humains par 1'acridine orange après traitement par le 5 bromodéoxyuridine;Dutrillaux;C. R. Acad. Sc. Paris,1973
5. ABNORMALITIES OF THE AUTOSOMES: TRISOMICS, DELETIONS, DUPLICATIONS, AND TRANSLOCATIONS (EXCEPT GROUPS D, E, AND G)
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1. 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 and Gynecology;2017-06
2. Trisomy Xp and partial tetrasomy Xq resulting from gain of a rearranged X chromosome in a female fetus: pathogenic or not?;Molecular Cytogenetics;2015-07-25
3. A case report of two male siblings with autism and duplication of Xq13–q21, a region including three genes predisposing for autism;European Child & Adolescent Psychiatry;2013-08-23
4. Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition;European Journal of Human Genetics;2009-10-21
5. Xq13.2q21.1 duplication encompassing the ATRX gene in a man with mental retardation, minor facial and genital anomalies, short stature and broad thorax;American Journal of Medical Genetics Part A;2009-03-16
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