A case of an atypically large proximal 15q deletion as cause for Prader-Willi syndrome arising from a de novo unbalanced translocation

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• 作者：Scott E. Hickey ; Devon Lamb Thrush ; Lauren Walters-Sen ; Shalini C. Reshmi ; Caroline Astbury ; Julie M. Gastier-Foster ; Joan Atkin
• 关键词：Prader&ndash ; Willi syndrome ; Atypical deletion ; Unbalanced translocation
• 刊名：European Journal of Medical Genetics
• 出版年：2013
• 出版时间：September, 2013
• 年：2013
• 卷：56
• 期：9
• 页码：510-514
• 全文大小：1241 K

文摘

We describe an 11 month old female with Prader-Willi syndrome (PWS) resulting from an atypically large deletion of proximal 15q due to a de novo 3;15 unbalanced translocation. The 10.6?Mb deletion extends from the chromosome 15 short arm and is not situated in a region previously reported as a common distal breakpoint for unbalanced translocations. There was no deletion of the reciprocal chromosome 3q subtelomeric region detected by either chromosomal microarray or FISH. The patient has hypotonia, failure to thrive, and typical dysmorphic facial features for PWS. The patient also has profound global developmental delay consistent with an expanded, more severe, phenotype.