Terminal microdeletions of 13q34 chromosome region in patients with intellectual disability: Delineation of an emerging new microdeletion syndrome
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- 作者：Eyal Reinsteina ; b ; Reinstein.eyal@gmail.com" class="auth_mail" title="E-mail the corresponding author ; eyalre1@clalit.org.il" class="auth_mail" title="E-mail the corresponding author ; Meytal Libermana ; Michal Feingold-Zadokc ; 1 ; Tamar Tennea ; John M. Graham Jr.d
- 关键词：Intellectual disability ; Microdeletion syndrome ; Chromosomal microarray ; 13q34
- 刊名：Molecular Genetics and Metabolism
- 出版年：2016
- 出版时间：May 2016
- 年：2016
- 卷：118
- 期：1
- 页码：60-63
- 全文大小：399 K
文摘
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The phenotype of individuals with 13q34 terminal microdeletions has not been delineated
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We report five adults with 13q34 terminal microdeletions
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These individuals display intellectual disability, obesity, and mild facial dysmorphism
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These individuals can become fairly self-sufficient, however they do not live independently, and require community and social support