Characterization of Core Clinical Phenotypes Associated With Recurrent Proximal 15q25.2 Microdeletions
Characterization of Core Clinical Phenotypes Associated With Recurrent Proximal 15q25.2 Microdeletions
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DOI：
10.1002/ajmg.a.36203
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发表时间：
2014-01-01
影响因子：
2
通讯作者：
White, Susan M.
中科院分区：
文献类型：
--
作者：
Burgess, Trent;Brown, Natasha J.;White, Susan M.
最近在 7 名患者中报道了 15q25.2 处复发性近端微缺失，最小重叠区域约为 1.5 兆碱基，并被认为与先天性膈疝 (CDH)、轻度至中度认知缺陷和/或与 Diamond-Blackfan 贫血一致的特征有关。我们报告了另外四名患者，并定义了具有这种微缺失的个体的核心表型特征，包括轻度至中度发育迟缓或智力障碍、产后身材矮小、贫血和男性隐睾。 CDH 与结构性器官畸形的关联似乎不太常见，静脉血栓形成也是如此。没有一致的面部畸形。我们的患者群体的新特征包括右位心、阻塞性睡眠呼吸暂停和唇裂。 (c) 2013 年 Wiley 期刊公司。
A recurrent proximal microdeletion at 15q25.2 with an approximate 1.5 megabase smallest region of overlap has recently been reported in seven patients and is proposed to be associated with congenital diaphragmatic hernia (CDH), mild to moderate cognitive deficit, and/or features consistent with Diamond-Blackfan anemia. We report on four further patients and define the core phenotypic features of individuals with this microdeletion to include mild to moderate developmental delay or intellectual disability, postnatal short stature, anemia, and cryptorchidism in males. CDH and structural organ malformations appear to be less frequent associations, as is venous thrombosis. There is no consistent facial dysmorphism. Features novel to our patient group include dextrocardia, obstructive sleep apnea, and cleft lip. (c) 2013 Wiley Periodicals, Inc.