一名发育迟缓儿童的13号染色体（q32-q34）新发重复。

De novo duplication of chromosome 13(q32-q34) in a child with developmental delay.

作者信息

Milani Donatella, D'Arrigo Stefano, Guerneri Silvana, Selicorni Angelo, Riva Daria, Pantaleoni Chiara

机构信息

Department of Pediatrics, Fondazione Ospedale Maggiore, Mangiagalli e Regina Elena, Milan, Italy.

出版信息

J Child Neurol. 2006 Dec;21(12):1084-5. doi: 10.1177/7010.2006.00229.

DOI:10.1177/7010.2006.00229

PMID:17156706

Abstract

We report the case of a child affected by a duplication of chromosome 13(q32-q34). This cytogenetic abnormality is rarely described in the literature. The description of our patient's characteristics might contribute to a better phenotype definition.

摘要

我们报告了一例患有13号染色体（q32-q34）重复的儿童病例。这种细胞遗传学异常在文献中鲜有描述。对我们患者特征的描述可能有助于更好地定义其表型。