Chromosome 22q11.2 deletion syndrome in African-American patients: A diagnostic challenge

Aravindhan Veerapandiyan, Omar A. Abdul-Rahman, Margaret P. Adam, Michael J. Lyons, Melanie Manning, Karlene Coleman, Lisa Kobrynski, Deeksha Taneja, Kelly Schoch, Holly H. Zimmerman, Vandana Shashi

Research output: Contribution to journalArticlepeer-review

17 Scopus citations


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 ${\raise0.5ex\hbox{$\scriptstyle 3$}\kern-0.1em/\kern-0.15em\lower0.25ex\hbox{$\scriptstyle {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.

Original languageEnglish (US)
Pages (from-to)2186-2195
Number of pages10
JournalAmerican Journal of Medical Genetics, Part A
Issue number9
StatePublished - Sep 2011
Externally publishedYes


  • 22q11.2 deletion syndrome
  • DiGeorge syndrome
  • Dysmorphology
  • Velocardiofacial syndrome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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