A de novo 17q21.2 duplication in a boy with developmental delay and dysmorphic features

被引：0
|
作者：
Poirsier-Violle, Celine [1 ]
Abourra, Azzedine [1 ]
Baumann, Clarisse [1 ]
Perrin, Laurence [1 ]
Capri, Yline [1 ]
Mignot, Cyril [2 ]
Passemard, Sandrine [1 ,3 ]
Drunat, Severine [1 ]
Verloes, Alain [1 ,3 ]
机构：
[1] Univ Paris Diderot Sorbonne Paris Cite, Dept Genet, Hop Robert Debre, Paris, France
[2] Hop La Pitie Salpetriere, Unite Genet Clin, Paris, France
[3] Univ Paris Diderot Sorbonne Paris Cite, INSERM, U676, Hop Robert Debre, Paris, France
来源：
EUROPEAN JOURNAL OF MEDICAL GENETICS | 2013年 / 56卷 / 04期
关键词：
CGH-array; Duplication; 17q21.2; Intellectual disability; Microcephaly; PROTEINS; ABSENCE; GENE;
D O I：
10.1016/j.ejmg.2012.12.005
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
We report a boy with severe developmental delay, microcephaly and characteristic facial dysmorphism consisting in round face, hypertelorism, upslanted palpebral fissures, small nose, large mouth, micrognathia, sparse hair and eyelashes. Array-CGH revealed a de novo duplication of 103 kb within 17q21.2 not reported to date. The duplication includes 8 genes: DHX58, KAT2A, HSPB9, RAB5C, KCNH4, HCRT, GHDC and STAT5B. Three genes (KATA2, KCNH4, and STAT5B) may contribute to intellectual deficiency. Further observations will be necessary to confirm the specificity of the facial Gestalt. (C) 2012 Elsevier Masson SAS. All rights reserved.
引用
收藏
页码：226 / 228
页数：3
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