title: Chromosome 22q11.2 deletion syndrome in African-American patients: a diagnostic challenge.
abstract: Chromosome 22q11.2 deletion syndrome (22q11DS) is associated with numerous and variable clinical manifestations including conotruncal heart abnormalities, palatal anomalies, hypoparathyroidism, immune deficiency, and cognitive deficits. The clinical suspicion of this syndrome is often heightened by the presence of characteristic facial features. A previous report highlighted the under-diagnosis of this condition in African Americans, thought to be related to a paucity of typical facial features. We ascertained the largest cohort (n = 50) of African-American individuals with 22q11DS reported thus far, across five genetics centers in the United States and report on their facial and other phenotypic features. About 3/4 of our cohort has at least one dysmorphic facial feature. Auricular abnormalities, especially small ears, are the most common dysmorphic facial feature followed by nasal and ocular abnormalities. Skeletal findings are seen in about 2/3 of our cohort, higher than the typical frequency reported in 22q11DS. Cardiac anomalies, developmental delay, and palatal abnormalities are seen at a lower frequency in our cohort. Thus, it is evident that the features traditionally associated with 22q11DS are difficult to recognize in African-American individuals with this syndrome, due to both altered frequencies of major anomalies and a non-classic facial appearance. Therefore, a high index of suspicion is needed to recognize 22q11DS in African-American individuals.
authors.affiliation: Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA.
authors.forename: Aravindhan
authors.initials: A
authors.lastname: Veerapandiyan
authors.forename: Omar A
authors.initials: OA
authors.lastname: Abdul-Rahman
authors.forename: Margaret P
authors.initials: MP
authors.lastname: Adam
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Lyons
authors.forename: Melanie
authors.initials: M
authors.lastname: Manning
authors.forename: Karlene
authors.initials: K
authors.lastname: Coleman
authors.forename: Lisa
authors.initials: L
authors.lastname: Kobrynski
authors.forename: Deeksha
authors.initials: D
authors.lastname: Taneja
authors.forename: Kelly
authors.initials: K
authors.lastname: Schoch
authors.forename: Holly H
authors.initials: HH
authors.lastname: Zimmerman
authors.forename: Vandana
authors.initials: V
authors.lastname: Shashi
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D000293:Adolescent; D000328:Adult; D001741:Black or African American / Q000235:genetics*; D000368:Aged; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D003072:Cognition Disorders / Q000235:genetics; D015331:Cohort Studies; D004423:Ear / Q000002:abnormalities; D005124:Eye Abnormalities; D019066:Facies; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007011:Hypoparathyroidism / Q000235:genetics; D007154:Immune System Diseases / Q000235:genetics; D007223:Infant; D008297:Male; D008875:Middle Aged; D009666:Nose / Q000002:abnormalities; D010641:Phenotype; D012189:Retrospective Studies