Characterization by array-CGH of an interstitial de novo
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- 作者：Joris Andrieux ; Steven Richebourg ; Bé ; né ; dicte Duban-Bedu ; Florence Petit ; Fré ; dé ; ric Leprê ; tre ; Sylvie Sukno ; Marie-Bertille Dehouck ; Bruno Delobel
- 关键词：6p21p22 duplication ; Array-CGH ; Epilepsy
- 刊名：European Journal of Medical Genetics
- 出版年：2008
- 出版时间：July-August 2008
- 年：2008
- 卷：51
- 期：4
- 页码：373-381
- 全文大小：537 K
文摘
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 7.3 Mb 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).