Kabuki syndrome is not caused by an 8p duplication: A cytogenetic study in 20 patients

被引：14

作者：

Engelen, JJM ^{[1
]}

Loneus, WH ^{[1
]}

Vaes-Peeters, G ^{[1
]}

Schrander-Stumpel, CTRM ^{[1
]}

机构：

[1] Acad Hosp Maastricht, Dept Clin Genet, NL-6202 AZ Maastricht, Netherlands

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2005年 / 132A卷 / 03期

关键词：

Kabuki syndrome; cytogenetic study; 8p duplication; clinical diagnosis;

D O I：

10.1002/ajmg.a.30457

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Kabuki syndrome is charcterized by a typical facial gestalt in combination with hypotonia and joint laxity, developmental delay, persistent fetal fingertip pads, and structural abnormalities mainly of the palate and the heart. Cytogenetic conditions may present with features of the syndrome. Recently, Milunsky and Huang [2003], reported an 8p duplication at chromosome 8p22-8p23.1 in 6 patients with Kabuki syndrome. We studied 20 individuals with Kabuki syndrome and were not able to confirm this finding. Kabuki syndrome remains a clinical diagnosis in the majority of cases. (C) 2004 Wiley-Liss, Inc.

引用

页码：276 / 277

页数：2

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