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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• 作者：Chiara Palka-Bayard-de-Volo^a ; ^{chiarapalka@libero.it} ; Stefania De Marco^a ; Valentina Chiavaroli^a ; Melissa Alfonsi^b ; Giuseppe Calabrese^b ; ^c ; Francesco Chiarelli^a ; Angelika Mohn^a
• 关键词：LWD ; Lé ; ri&ndash ; 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 Intellig
• 刊名：Gene
• 出版年：2012
• 期刊代码：73_03781119
• 类别：bio
• 出版时间：1 August, 2012
• 卷：504
• 期：1
• 页码：107-110
• 文件大小：353 K

摘要

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.