4.5 Mb microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate
4.5 Mb microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate
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DOI：
10.1016/j.ejmg.2009.06.003
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发表时间：
2009-11-01
影响因子：
1.9
通讯作者：
Clayton-Smith, Jill
中科院分区：
文献类型：
--
作者：
Urquhart, Jill;Black, Graeme C. M.;Clayton-Smith, Jill
我们报告了一例发育迟缓和腭裂患者的2q33.1缺失，缺失4.5Mb。之前有过各种关于2q3缺失的报道，都有不同的断点，而且都比现在的情况大。虽然有2q3缺失的患者的表型有一些变化，但所有患者都共享2q33.1内的一个常见缺失区域，其中包括SATB2，这是一个先前被证明与腭裂相关的基因。我们的患者的表型特征比迄今报道的要轻。(C)2009年爱思唯尔·马森公司。版权所有。
We report a 4.5 Mb deletion of 2q33.1 in an individual with developmental delay and cleft palate. There have been various previous reports of deletions of 2q3, all with varying breakpoints and all larger than the current case. Whilst there is some variation in the phenotypes of patients with 2q3 deletions all share a commonly deleted region within 2q33.1 which includes SATB2, a gene previously shown to be associated with cleft palate. The phenotypic features of our patient are milder than those reported so far. (C) 2009 Elsevier Masson SAS. All rights reserved.