Molecular and clinical characterization of patients with a ring chromosome 11

被引：4

作者：

Hansson, Kerstin B. M. ^{[1
]}

Gijsbers, Antoinet C. J.

Oostdijk, Wilma ^{[2
]}

Rehbock, Jan J. B. ^{[3
]}

de Snoo, Femke

Ruivenkamp, Claudia A. L.

Kant, Sarina G.

机构：

[1] Leiden Univ, LDGA, Sect Clin Cytogenet, Dept Clin Genet,Med Ctr, NL-2300 RC Leiden, Netherlands

[2] Leiden Univ, Dept Pediat, Med Ctr, NL-2300 RC Leiden, Netherlands

[3] t Lange Land Hosp, Dept Pediat, Zoetermeer, Netherlands

来源：

EUROPEAN JOURNAL OF MEDICAL GENETICS | 2012年 / 55卷 / 12期

关键词：

Ring chromosome 11; SNP array; Cafe au lait spots;

D O I：

10.1016/j.ejmg.2012.08.004

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Ring chromosomes are uncommon cytogenetic findings and are often associated with clinical features overlapping the phenotype of patients with terminal deletions of the corresponding chromosome. Most of the ring chromosomes arise sporadically and parental transmission is rarely observed. We report five patients carrying a ring chromosome 11, with three of the patients belonging to the same family. SNP array analysis was performed to characterize the different ring chromosomes and the clinical phenotypes were compared with previously reported patients with ring chromosome 11. (C) 2012 Elsevier Masson SAS. All rights reserved.

引用

页码：708 / 714

页数：7

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