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

Publication ,  Journal Article
Ensenauer, RE; Adeyinka, A; Flynn, HC; Michels, VV; Lindor, NM; Dawson, DB; Thorland, EC; Lorentz, CP; Goldstein, JL; McDonald, MT; Smith, WE ...
Published in: Am J Hum Genet
November 2003

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.

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Published In

Am J Hum Genet

DOI

ISSN

0002-9297

Publication Date

November 2003

Volume

73

Issue

5

Start / End Page

1027 / 1040

Location

United States

Related Subject Headings

  • Syndrome
  • Polymorphism, Genetic
  • Phenotype
  • Microsatellite Repeats
  • Male
  • Interphase
  • Infant, Newborn
  • Infant
  • In Situ Hybridization, Fluorescence
  • Humans
 

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Ensenauer, R. E., Adeyinka, A., Flynn, H. C., Michels, V. V., Lindor, N. M., Dawson, D. B., … Jalal, S. M. (2003). Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients. Am J Hum Genet, 73(5), 1027–1040. https://doi.org/10.1086/378818
Ensenauer, Regina E., Adewale Adeyinka, Heather C. Flynn, Virginia V. Michels, Noralane M. Lindor, D Brian Dawson, Erik C. Thorland, et al. “Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients.Am J Hum Genet 73, no. 5 (November 2003): 1027–40. https://doi.org/10.1086/378818.
Ensenauer RE, Adeyinka A, Flynn HC, Michels VV, Lindor NM, Dawson DB, et al. Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients. Am J Hum Genet. 2003 Nov;73(5):1027–40.
Ensenauer, Regina E., et al. “Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients.Am J Hum Genet, vol. 73, no. 5, Nov. 2003, pp. 1027–40. Pubmed, doi:10.1086/378818.
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. Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients. Am J Hum Genet. 2003 Nov;73(5):1027–1040.
Journal cover image

Published In

Am J Hum Genet

DOI

ISSN

0002-9297

Publication Date

November 2003

Volume

73

Issue

5

Start / End Page

1027 / 1040

Location

United States

Related Subject Headings

  • Syndrome
  • Polymorphism, Genetic
  • Phenotype
  • Microsatellite Repeats
  • Male
  • Interphase
  • Infant, Newborn
  • Infant
  • In Situ Hybridization, Fluorescence
  • Humans