Infrequent Manifestations of Kabuki Syndrome in a Patient with Novel MLL2 Mutation

被引：19

作者：

Zarate, Y. A. ^{[1
]}

Zhan, H. ^{[1
,2
]}

Jones, J. R. ^{[1
,2
]}

机构：

[1] Greenwood Genet Ctr, 1911 Thurmond Mall, Columbia, SC 29201 USA

[2] Greenwood Genet Ctr, Mol Diagnost Lab, Greenwood, SC 29646 USA

来源：

MOLECULAR SYNDROMOLOGY | 2012年 / 3卷 / 04期

关键词：

Diaphragmatic hernia; Hypoglycemia; Kabuki syndrome; MLL2;

D O I：

10.1159/000342253

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We present a case of a 9-month-old Hispanic female with Kabuki syndrome with some infrequent manifestations including a single umbilical artery, butterfly vertebrae, a small larynx, a preauricular pit, microtia with internal ear abnormalities, abnormal calcium metabolism, premature thelarche, neonatal/persistent hypoglycemia and eventration of the diaphragm. She was found to have a previously unreported nonsense MLL2 mutation. This is the first case that includes all such findings occurring simultaneously that was genotyped. Copyright (C) 2012 S. Karger AG, Basel

引用

页码：180 / 184

页数：5

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