Partial trisomy 18q and epileptic spasms induced by eating associated with bilateral opercular dysplasia.

作者信息

d'Orsi Giuseppe, Pascarella Maria Grazia, Pansini Angela, Buonadonna Antonia Lucia, Trivisano Marina, Pacillo Francesca, Carapelle Elena, Demaio Vincenzo, Minervini Mauro, Gentile Mattia, Specchio Luigi M

机构信息

Epilepsy Center-Clinic of Nervous System Diseases, University of Foggia, Riuniti Hospital, Foggia, Italy.

出版信息

Am J Med Genet A. 2013 May;161A(5):1194-5. doi: 10.1002/ajmg.a.35859. Epub 2013 Mar 25.

DOI:10.1002/ajmg.a.35859

PMID:23529863

Abstract

摘要

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Partial trisomy 18q and epileptic spasms induced by eating associated with bilateral opercular dysplasia.

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引用本文的文献

A non-syndromic intellectual disability associated with a de novo microdeletion at 7q and 18p, microduplication at Xp, and 18q partial trisomy detected using chromosomal microarray analysis approach.通过染色体微阵列分析方法检测到的一种非综合征性智力障碍，与7号染色体长臂和18号染色体短臂的新发微缺失、X染色体短臂的微重复以及18号染色体长臂部分三体有关。

Mol Cytogenet. 2014 Jun 27;7:44. doi: 10.1186/1755-8166-7-44. eCollection 2014.

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