Array-CGH characterization of a de novo t(X;Y)(p22;q11) in a female with short stature and mental retardation |
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Authors: | Palka-Bayard-de-Volo Chiara De Marco Stefania Chiavaroli Valentina Alfonsi Melissa Calabrese Giuseppe Chiarelli Francesco Mohn Angelika |
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Affiliation: | Department of Pediatrics, G. D'Annunzio University, Chieti, Italy. chiarapalka@libero.it |
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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. |
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Keywords: | LWD, Léri–Weill dyschondrosteosis FISH, Fluorescence in situ hybridization array-CGH, Array-comparative genomic hybridization IGF-1, Insulin-like growth factor-1 WISC III, Wechsler Intelligence Scale for Children-III VIQ, Verbal Intelligence Quotient PIQ, Performance Intelligence Quotient TIQ, Yotal Intelligence Quotient SHOX, Short stature homeobox VCX3A, Variably charged X chromosome 3A STS, Steroid sulfatase KAL1, Kallmann syndrome NLGN4, Neuroligin 4 |
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