Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients.

Journal Article (Journal Article)

Chromosome 22, particularly band 22q11.2, is predisposed to rearrangements due to misalignments of low-copy repeats (LCRs). DiGeorge/velocardiofacial syndrome (DG/VCFS) is a common disorder resulting from microdeletion within the same band. Although both deletion and duplication are expected to occur in equal proportions as reciprocal events caused by LCR-mediated rearrangements, very few microduplications have been identified. We have identified 13 cases of microduplication 22q11.2, primarily by interphase fluorescence in situ hybridization (FISH). The size of the duplications, determined by FISH probes from bacterial artificial chromosomes and P(1) artificial chromosomes, range from 3-4 Mb to 6 Mb, and the exchange points seem to involve an LCR. Molecular analysis based on 15 short tandem repeats confirmed the size of the duplications and indicated that at least 1 of 15 loci has three alleles present. The patients' phenotypes ranged from mild to severe, sharing a tendency for velopharyngeal insufficiency with DG/VCFS but having other distinctive characteristics, as well. Although the present series of patients was ascertained because of some overlapping features with DG/VCF syndromes, the microduplication of 22q11.2 appears to be a new syndrome.

Full Text

Duke Authors

Cited Authors

  • Ensenauer, RE; Adeyinka, A; Flynn, HC; Michels, VV; Lindor, NM; Dawson, DB; Thorland, EC; Lorentz, CP; Goldstein, JL; McDonald, MT; Smith, WE; Simon-Fayard, E; Alexander, AA; Kulharya, AS; Ketterling, RP; Clark, RD; Jalal, SM

Published Date

  • November 2003

Published In

Volume / Issue

  • 73 / 5

Start / End Page

  • 1027 - 1040

PubMed ID

  • 14526392

Pubmed Central ID

  • PMC1180483

International Standard Serial Number (ISSN)

  • 0002-9297

Digital Object Identifier (DOI)

  • 10.1086/378818


  • eng

Conference Location

  • United States