Article
Familial X;Y translocation with distinct phenotypic consequences: Characterization using FISH and array CGH.
American journal of medical genetics. Part A - 1 Jul 2010
Bukvic N, Carri V Delli, Di Cosola M L, Pustorino G, Cesarano C, Chetta M, Santacroce R, Sarno M, Sessa F, Longo V, Novelli A, Gentile M, Margaglione M
Abstract excerpt
X;Y translocation is a relatively rare event in humans. Analyzed cytogenetically, the majority of these aberrations have breakpoints at Xp22 and Yq11. Females with t(X;Y)(p22;q11) are phenotypically normal except for short stature, while the males may have abnormalities. Aberrations that lead to nullisomy of the deleted region and complete loss of the respective genes have been recognized as a cause of variable...
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