通过阵列比较基因组杂交技术对一名患有癫痫和发育迟缓男孩的间质性新生串联6p21.2p22.1重复进行特征分析。

Characterization by array-CGH of an interstitial de novo tandem 6p21.2p22.1 duplication in a boy with epilepsy and developmental delay.

作者信息

Andrieux Joris, Richebourg Steven, Duban-Bedu Bénédicte, Petit Florence, Leprêtre Frédéric, Sukno Sylvie, Dehouck Marie-Bertille, Delobel Bruno

机构信息

Laboratoires de Génétique Médicale, Hôpital Jeanne de Flandre, 2 Avenue Oscar Lambret, CHRU, Lille 59000, France.

出版信息

Eur J Med Genet. 2008 Jul-Aug;51(4):373-81. doi: 10.1016/j.ejmg.2008.02.010. Epub 2008 Mar 28.

DOI:10.1016/j.ejmg.2008.02.010

PMID:18463015

Abstract

We report on a 6-years-old boy with psychomotor retardation, mild dysmorphic features and behavioral disturbances associated with epilepsy. Conventional cytogenetic analysis concluded to an interstitial de novo 6p21.2p22.3 duplication. Molecular cytogenetic analysis, including array-CGH technology, allows characterization of this 7.3Mb interstitial tandem duplication. The phenotype of this small 6p duplication reported to date is compared to other cases in the literature. Presence of epilepsy, although rare in patients with 6p duplication may be linked to genes involved in brain function and synaptic transmission in the 6p21.2p22.1 duplicated region (GABBR1, BRD2 and GRM4).

摘要

我们报告了一名6岁男孩，患有精神运动发育迟缓、轻度畸形特征以及与癫痫相关的行为障碍。常规细胞遗传学分析结果显示存在一个6p21.2p22.3间质性新生重复。分子细胞遗传学分析，包括采用比较基因组杂交芯片技术，能够对这个7.3Mb的间质性串联重复进行特征描述。将迄今报道的这种小的6p重复的表型与文献中的其他病例进行了比较。癫痫的存在，尽管在6p重复患者中较为罕见，但可能与6p21.2p22.1重复区域中参与脑功能和突触传递的基因（GABBR1、BRD2和GRM4）有关。