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

Publication ,  Journal Article
Veerapandiyan, A; Abdul-Rahman, OA; Adam, MP; Lyons, MJ; Manning, M; Coleman, K; Kobrynski, L; Taneja, D; Schoch, K; Zimmerman, HH; Shashi, V
Published in: Am J Med Genet A
September 2011

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.

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Published In

Am J Med Genet A

DOI

EISSN

1552-4833

Publication Date

September 2011

Volume

155A

Issue

9

Start / End Page

2186 / 2195

Location

United States

Related Subject Headings

  • Retrospective Studies
  • Phenotype
  • Nose
  • Middle Aged
  • Male
  • Infant
  • Immune System Diseases
  • Hypoparathyroidism
  • Humans
  • Heart Defects, Congenital
 

Citation

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Chicago
ICMJE
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Veerapandiyan, A., Abdul-Rahman, O. A., Adam, M. P., Lyons, M. J., Manning, M., Coleman, K., … Shashi, V. (2011). Chromosome 22q11.2 deletion syndrome in African-American patients: a diagnostic challenge. Am J Med Genet A, 155A(9), 2186–2195. https://doi.org/10.1002/ajmg.a.34226
Veerapandiyan, Aravindhan, Omar A. Abdul-Rahman, Margaret P. Adam, Michael J. Lyons, Melanie Manning, Karlene Coleman, Lisa Kobrynski, et al. “Chromosome 22q11.2 deletion syndrome in African-American patients: a diagnostic challenge.Am J Med Genet A 155A, no. 9 (September 2011): 2186–95. https://doi.org/10.1002/ajmg.a.34226.
Veerapandiyan A, Abdul-Rahman OA, Adam MP, Lyons MJ, Manning M, Coleman K, et al. Chromosome 22q11.2 deletion syndrome in African-American patients: a diagnostic challenge. Am J Med Genet A. 2011 Sep;155A(9):2186–95.
Veerapandiyan, Aravindhan, et al. “Chromosome 22q11.2 deletion syndrome in African-American patients: a diagnostic challenge.Am J Med Genet A, vol. 155A, no. 9, Sept. 2011, pp. 2186–95. Pubmed, doi:10.1002/ajmg.a.34226.
Veerapandiyan A, Abdul-Rahman OA, Adam MP, Lyons MJ, Manning M, Coleman K, Kobrynski L, Taneja D, Schoch K, Zimmerman HH, Shashi V. Chromosome 22q11.2 deletion syndrome in African-American patients: a diagnostic challenge. Am J Med Genet A. 2011 Sep;155A(9):2186–2195.
Journal cover image

Published In

Am J Med Genet A

DOI

EISSN

1552-4833

Publication Date

September 2011

Volume

155A

Issue

9

Start / End Page

2186 / 2195

Location

United States

Related Subject Headings

  • Retrospective Studies
  • Phenotype
  • Nose
  • Middle Aged
  • Male
  • Infant
  • Immune System Diseases
  • Hypoparathyroidism
  • Humans
  • Heart Defects, Congenital