The 22q11.2 deletion in African-American patients: An underdiagnosed population?
The 22q11.2 deletion in African-American patients: An underdiagnosed population?
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DOI：
10.1002/ajmg.a.30069
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发表时间：
2005-04-30
影响因子：
2
通讯作者：
Zackai, EH
中科院分区：
文献类型：
--
作者：
McDonald-McGinn, DM;Minugh-Purvis, N;Zackai, EH
与22q11.2缺失相关的发现通常包括先天性心脏畸形、腭异常、免疫缺陷、低钙血症和发育迟缓或学习障碍。通常，基于特征性面部外观的存在，对具有这些发现中的一个或多个的患者的诊断的临床怀疑被提高。在我们的370例22q11.2缺失患者的大型队列中，我们报告了非裔美国人在我们组中的代表性不足，以及这些患者中颅面畸形的缺乏。我们注意到，缺乏典型的面部特征可能会导致这一人群的确定性降低，此外，可能会延迟姑息治疗，认知矫正和复发风险咨询的实施。因此，我们建议，临床医生的怀疑阈值应该在非洲裔美国人的患者较低。(c)2005 Wiley-Liss，Inc.
Findings associated with the 22q11.2 deletion often include congenital heart malformations, palatal anomalies, immunodeficiency, hypocalcemia, and developmental delay or learning disabilities. Often the clinical suspicion of the diagnosis in a patient with one or more of these findings is heightened based on the presence of a characteristic facial appearance. In our large cohort of 370 patients with the 22q11.2 deletion, we report the under-representation of African-Americans in our group, as well as, the paucity of craniofacial dysmorphism in these patients. We note that the absence of the typical facial features may result in decreased ascertainment in this population and, furthermore, may delay the implementation of palliative care, cognitive remediation, and recurrence risk counseling. We, therefore, suggest that the clinician's threshold of suspicion should be lower in African-American patients. (c) 2005 Wiley-Liss, Inc.