22q13.3 Deletion syndrome: Clinical and molecular analysis using array CGH

S. U. Dhar, D. Del Gaudio, J. R. German, S. U. Peters, Z. Ou, P. I. Bader, J. S. Berg, M. Blazo, C. W. Brown, B. H. Graham, T. A. Grebe, S. Lalani, M. Irons, S. Sparagana, M. Williams, J. A. Phillips, A. L. Beaudet, P. Stankiewicz, A. Patel, S. W. CheungT. Sahoo

Research output: Contribution to journalArticlepeer-review

108 Scopus citations


The 22q13.3 deletion syndrome results from loss of terminal segments of varying sizes at 22qter. Few genotype-phenotype correlations have been found but all patients have mental retardation and severe delay, or absence of, expressive speech. We carried out clinical and molecular characterization of 13 patients. Developmental delay and speech abnormalities were common to all and comparable in frequency and severity to previously reported cases. Array-based comparative genomic hybridization showed the deletions to vary from95 kb to 8.5Mb. We also carried out high-resolution 244K array comparative genomic hybridization in 10 of 13 patients, that defined the proximal and distal breakpoints of each deletion and helped determine the size, extent, and gene content within the deletion. Two patients had a smaller 95 kb terminal deletion with breakpoints within the SHANK3 gene while three other patients had a similar 5.5Mb deletion implying the recurrent nature of these deletions. The two largest deletions were found in patients with ring chromosome 22. Nocorrelationcould be made with deletion size and phenotype although complete/partial SHANK3 was deleted in all patients. There are very few reports on array comparative genomic hybridization analysis on patients with the 22q13.3 deletion syndrome, and we aim to accurately characterize these patients both clinically and at the molecular level, to pave the way for further genotype-phenotype correlations.

Original languageEnglish (US)
Pages (from-to)573-581
Number of pages9
JournalAmerican Journal of Medical Genetics, Part A
Issue number3
StatePublished - Mar 2010
Externally publishedYes


  • 22q13.3 deletion syndrome
  • ArrayCGH
  • Autism spectrum disorders
  • Developmental delay
  • SHANK3
  • Speech delay

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics


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