Chromosome 17q21.31 duplication syndrome: Description of a new familiar case and further delineation of the clinical spectrum
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- 作者：Federica Nataccia ; Enrico Alfeib ; enrico.alfei@istituto-besta.it" class="auth_mail" title="E-mail the corresponding author ; Lucia Tararà ; b ; Stefano D'Arrigob ; Orsetta Zuffardic ; Barbara Gentilina ; Chiara Pantaleonib
- 关键词：Psychomotor delay ; Intellectual disability ; Autism spectrum disorder ; 17q21.31 microduplication ; Genetic syndrome ; KANSL1
- 刊名：European Journal of Paediatric Neurology
- 出版年：2016
- 出版时间：January 2016
- 年：2016
- 卷：20
- 期：1
- 页码：183-187
- 全文大小：499 K
文摘
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First report of a familiar transmission of 17q21.31 duplication syndrome.
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Description of the phenotype in proband and affected relatives.
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Further delineation of the clinical spectrum.
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Detailed description of neurobehavioral phenotype.
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First evidence of complete penetrance with variable expressivity in affected relatives.