PMID: 8592335Nov 1, 1995Paper

A familial Xp+ chromosome, dup (Xq26.3-->qter)

Journal of Medical Genetics
A I VasquezJ A Crolla

Abstract

A maternally transmitted Xp+ chromosome was associated with an abnormal phenotype, including developmental delay and short stature, in two male cousins and their 12 year old aunt. The respective mothers were not mentally impaired but had short stature. The G banding pattern identified the extra chromosome segment as a repeat of Xq26.3-->qter attached to an apparently intact Xp22.3 sub-band, so the Xp+ chromosome may be described as rea(X)(Xqter-->p22.3::Xq26.3-->Xqter). The rearranged chromosome was late replicating in 97 to 100% of the metaphases in the mothers but it was early replicating in 43% of the lymphocytes in the mentally defective female (n = 100 cells/subject). Fluorescence in situ hybridisation using X and Y chromosome paints, as well as cosmids A and 1A1 specific for loci within Xq28, confirmed both the identity of the extra segment and the entirety of the Xp pseudoautosomal region. Therefore, the phenotypic consequences in this family can be related to the Xq26.3-->qter functional disomy allowing for the effects of X inactivation in the female carriers.

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Citations

Mar 10, 2001·American Journal of Medical Genetics·M AkiyamaY Eto
Dec 2, 2010·European Journal of Human Genetics : EJHG·Amy M BremanSau Wai Cheung
Mar 3, 2005·European Journal of Human Genetics : EJHG·Damien SanlavilleCatherine Turleau
Apr 20, 2001·Clinical Dysmorphology·E J LammerP D Cotter
Feb 24, 2009·Orphanet Journal of Rare Diseases·Damien SanlavilleCatherine Turleau
Jan 1, 2008·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·M SmykE Bocian
May 25, 2013·American Journal of Medical Genetics. Part a·Shino ShimadaToshiyuki Yamamoto
Jan 27, 2010·American Journal of Medical Genetics. Part a·Christian B RicksDaryl A Scott
Apr 12, 2002·Genomics·Nicola M SolomonPaul Q Thomas
Jun 24, 2004·American Journal of Medical Genetics. Part a·Antonio NovelliBruno Dallapiccola
Jan 10, 1997·American Journal of Medical Genetics·A ZhangC G Palmer
May 12, 2005·American Journal of Medical Genetics. Part a·Sabrina F ChengPhilip D Cotter
Jan 1, 2014·Human Genome Variation·Toshiyuki YamamotoNobuhiko Okamoto

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