کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
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2817799 | 1160012 | 2012 | 4 صفحه PDF | دانلود رایگان |
We report the clinical and molecular investigations in a girl with 46,X,-X,+der(X)t(X;Y)(p22;q11) de novo karyotype who presented an intricate phenotype characterized by mental retardation and facial dysmorphisms in combination with short stature. The structure of the derivative X chromosome was studied using BAC array-CGH which disclosed the Xp22 breakpoint between the STS and the VCX3A gene and the presence of the Yq11.1qter chromosome. It is common that females with Xp;Yq translocations present only short stature and are normal in every other aspect. Thus, this would be the first case in which a girl with Xp;Yq translocation presents an unusual phenotype with intermediate male clinical features with Xp;Yq translocations. The risk of developing gonadoblastoma in females with Y chromosome material is also discussed and, to this effect, different explanations related to this apparent variation are also presented.
► This is the first case of a t(X;Y) in a girl with mental retardation and short stature.
► Mental retardation may be related to the absence of the NLGN4 gene.
► The risk of gonadoblastoma, in the absence of the GBY gene, is unknown.
Journal: Gene - Volume 504, Issue 1, 1 August 2012, Pages 107–110