Array-CGH characterization of a de novo t(X;Y)(p22;q11) in a female with short stature and mental retardation

Gene
Chiara Palka-Bayard-de-VoloAngelika Mohn

Abstract

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.

References

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Feb 14, 2004·American Journal of Human Genetics·Frédéric LaumonnierSylvain Briault

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Citations

Oct 9, 2014·Reproduction, Fertility, and Development·Adriana Valéria Sales BispoNeide Santos

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