A de novo 15q13.2q13.3 deletion in a boy with an Angelman syndrome like phenotype

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• 作者：Tuva Barø ; y ; Doriana Misceo ; &#xd8 ; ivind Braaten ; Johan R. Helle ; Madeleine Fannemel ; Petter Strø ; mme ; Eirik Frengen
• 关键词：Angelman syndrome like phenotype ; Mental retardation ; 15q13 deletion ; aCGH
• 刊名：European Journal of Medical Genetics
• 出版年：2010
• 出版时间：July-August 2010
• 年：2010
• 卷：53
• 期：4
• 页码：221-224
• 全文大小：427 K

文摘

We report on a 11-year-old boy investigated for a clinical suspicion of Angelman syndrome (AS) (OMIM 105830) who was found to carry a de novo interstitial deletion of chromosome 15q13.2q13.3. The deletion overlaps the critical region for the newly recognized recurrent 15q13.3 deletion syndrome. This is the first report of a patient with 15q13.3 deletion syndrome with clinical features similar to that of AS, thus broadening the phenotypic spectrum associated with the 15q13.3 microdeletion syndrome.