Inherited duplication of Xq27.2-->qter: phenocopy of infantile Prader-Willi syndrome

Clinical Dysmorphology
E J LammerPhilip D Cotter

Abstract

A male is described with familial duplication of the distal long arm of the X chromosome (Xq27.2-->qter) at the distal short arm (Xp22.3). The proband has features of the male Prada-Willi syndrome phenotype that have not previously been reported in other males with duplication of Xq27-->qter.

References

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Citations

Oct 16, 2008·European Journal of Human Genetics : EJHG·Jill Clayton-SmithDian Donnai
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
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 15, 2012·American Journal of Medical Genetics. Part a·Jennifer N SanmannWarren G Sanger
May 25, 2013·American Journal of Medical Genetics. Part a·Shino ShimadaToshiyuki Yamamoto
Apr 30, 2016·Taiwanese Journal of Obstetrics & Gynecology·Ana I Vásquez-VelásquezJosé E García-Ortiz
Aug 6, 2003·American Journal of Medical Genetics. Part a·Luisa FlorezYves Lacassie
Jan 1, 2014·Human Genome Variation·Toshiyuki YamamotoNobuhiko Okamoto
May 12, 2005·American Journal of Medical Genetics. Part a·Sabrina F ChengPhilip D Cotter
Apr 12, 2002·Genomics·Nicola M SolomonPaul Q Thomas

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