The 11q terminal deletion disorder: A prospective study of 110 cases
The 11q terminal deletion disorder: A prospective study of 110 cases
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DOI：
10.1002/ajmg.a.30090
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发表时间：
2004-08-15
影响因子：
2
通讯作者：
Jones, C
中科院分区：
文献类型：
--
作者：
Grossfeld, PD;Mattina, T;Jones, C
我们对110例11 q末端缺失疾病（以前称为Jacobsen综合征）患者（75例未发表）进行了前瞻性研究，这些患者通过核型诊断。所有患者均有多种畸形特征。几乎所有的患者（94%）都患有以血小板减少和血小板功能障碍为特征的Paris-Trousseau综合征。总的来说，56%的患者患有严重的先天性心脏病。认知功能从正常智力到中度智力迟钝不等。近一半的患者有轻度精神发育迟滞，具有特征性神经精神病学特征，表现出接近正常的接受性语言能力，但表达性语言轻度至中度受损。眼科、胃肠道和泌尿生殖系统问题很常见，粗大和精细运动延迟也很常见。上呼吸道感染很常见，但未报告危及生命的感染。我们包括65例患者的缺失断点的分子分析，从其中定义了14种临床表型的遗传“关键区域”，以及神经精神病学概况。基于这些发现，我们提供了一套全面的建议，为临床管理的患者与11 q末端缺失障碍。(C)2004 Wiley-Liss，Inc.
We performed a prospective study of 110 patients (75 not previously published) with the 11q terminal deletion disorder (previously called Jacobsen syndrome), diagnosed by karyotype. All the patients have multiple dysmorphic features. Nearly all the patients (94%) have Paris-Trousseau syndrome characterized by thrombocytopenia and platelet dysfunction. In total, 56% of the patients have serious congenital heart defects. Cognitive function ranged from normal intelligence to moderate mental retardation. Nearly half of the patients have mild mental retardation with a characteristic neuropsychiatric profile demonstrating near normal receptive language ability, but mild to moderate impairment in expressive language. Ophthalmologic, gastrointestinal, and genitourinary problems were common, as were gross and fine motor delays. Infections of the upper respiratory system were common, but no life-threatening infections were reported. We include a molecular analysis of the deletion breakpoints in 65 patients, from which genetic "critical regions" for 14 clinical phenotypes are defined, as well as for the neuropsychiatric profiles. Based on these findings, we provide a comprehensive set of recommendations for the clinical management of patients with the 11q terminal deletion disorder. (C) 2004 Wiley-Liss, Inc.