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一名患有发育迟缓及畸形特征男孩的新发17q21.2重复。

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

作者信息

Poirsier-Violle Céline, Abourra Azzedine, Baumann Clarisse, Perrin Laurence, Capri Yline, Mignot Cyril, Passemard Sandrine, Drunat Séverine, Verloes Alain

机构信息

Départment of Genetics, Univ Paris Diderot Sorbonne Paris Cité, Robert Debré Hospital, Paris, France.

出版信息

Eur J Med Genet. 2013 Apr;56(4):226-8. doi: 10.1016/j.ejmg.2012.12.005. Epub 2013 Jan 19.

DOI:10.1016/j.ejmg.2012.12.005
PMID:23337768
Abstract

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.

摘要

我们报告了一名患有严重发育迟缓、小头畸形以及具有特征性面部畸形的男孩，其面部畸形表现为圆脸、眼距增宽、睑裂上斜、小鼻子、大嘴、小颌、头发和睫毛稀疏。染色体微阵列比较基因组杂交（Array-CGH）显示在17q21.2区域存在一个103 kb的新发重复，迄今为止尚未见报道。该重复包含8个基因：DHX58、KAT2A、HSPB9、RAB5C、KCNH4、HCRT、GHDC和STAT5B。三个基因（KATA2、KCNH4和STAT5B）可能导致智力缺陷。需要进一步观察以确认面部整体形态的特异性。

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