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The 22q11.2 deletion in African‐American patients: An underdiagnosed population?
Author(s) -
McDonaldMcGinn Donna M.,
MinughPurvis Nancy,
Kirschner Richard E.,
Jawad Abbas,
Tonnesen Melissa K.,
Catanzaro Jason R.,
Goldmuntz Elizabeth,
Driscoll Deborah,
LaRossa Don,
Emanuel Beverly S.,
Zackai Elaine H.
Publication year - 2005
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30069
Subject(s) - craniofacial , medicine , cohort , pediatrics , population , deletion syndrome , psychiatry , pathology , genetics , biology , environmental health , gene , phenotype
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. © 2005 Wiley‐Liss, Inc.