期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 134A, 期 3, 页码 242-246出版社
WILEY
DOI: 10.1002/ajmg.a.30069
关键词
22q11.2 deletion syndrome; DiGeorge syndrome; velocardio-facial syndrome
资金
- NCRR NIH HHS [MO1-RR00240, M01 RR000240] Funding Source: Medline
- NIDCD NIH HHS [P01 DC002027, P01 DC002027-05, DC02027] Funding Source: Medline
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.
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