title: The 22q11.2 deletion in African-American patients: an underdiagnosed population?
abstract: 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.
authors.affiliation: Division of Human Genetics and Molecular Biology, The Hospital of the University of Pennsylvania, Philadelphia, PA 19104, USA. mcginn@email.chop.edu
authors.forename: Donna M
authors.initials: DM
authors.lastname: McDonald-McGinn
authors.forename: Nancy
authors.initials: N
authors.lastname: Minugh-Purvis
authors.forename: Richard E
authors.initials: RE
authors.lastname: Kirschner
authors.forename: Abbas
authors.initials: A
authors.lastname: Jawad
authors.forename: Melissa K
authors.initials: MK
authors.lastname: Tonnesen
authors.forename: Jason R
authors.initials: JR
authors.lastname: Catanzaro
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Goldmuntz
authors.forename: Deborah
authors.initials: D
authors.lastname: Driscoll
authors.forename: Don
authors.initials: D
authors.lastname: Larossa
authors.forename: Beverly S
authors.initials: BS
authors.lastname: Emanuel
authors.forename: Elaine H
authors.initials: EH
authors.lastname: Zackai
mesh_terms: D000293:Adolescent; D000328:Adult; D001741:Black or African American / Q000235:genetics* / Q000706:statistics & numerical data; D044466:Asian People / Q000235:genetics / Q000706:statistics & numerical data; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D005260:Female; D006630:Hispanic or Latino / Q000235:genetics / Q000706:statistics & numerical data; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D044465:White People / Q000235:genetics / Q000706:statistics & numerical data