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De novo partial duplication of chromosome 7p in a male with autistic disorder.

Publication ,  Journal Article
Wolpert, CM; Donnelly, SL; Cuccaro, ML; Hedges, DJ; Poole, CP; Wright, HH; Gilbert, JR; Pericak-Vance, MA
Published in: Am J Med Genet
April 8, 2001
Published version (DOI) Link to item

We describe a de novo partial duplication of 7p in a 25-year-old male with autistic disorder (AD). High-resolution chromosome analysis revealed an extra segment added to the proximal short arm of chromosome 7. The G-band pattern was consistent with an inverted duplication of 7p11.2-p14.1. Fluorescent in situ hybridization (FISH), using a whole chromosome 7 DNA probe (Cytocell, Inc., UK), confirmed that the extra chromosome material is derived from chromosome 7, indicating that the patient is partially trisomic for a region of the short arm of chromosome 7. Partial duplication of the short arm of chromosome 7 is uncommon with little more than 30 cases in the literature. This is the first report of an individual with a 7p duplication who also has AD.

Duke Scholars

Margaret Ann Pericak-Vance
Author Margaret Ann Pericak-Vance Medicine, Hematology

Published In

Am J Med Genet

DOI

10.1002/ajmg.1258

ISSN

0148-7299

Publication Date

April 8, 2001

Volume

105

Issue

3

Start / End Page

222 / 225

Location

United States

Related Subject Headings

  • Pregnancy
  • Nuclear Family
  • Male
  • In Situ Hybridization, Fluorescence
  • Humans
  • Gene Duplication
  • Female
  • Family Health
  • Chromosomes, Human, Pair 7
  • Chromosome Banding
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Wolpert, C. M., Donnelly, S. L., Cuccaro, M. L., Hedges, D. J., Poole, C. P., Wright, H. H., … Pericak-Vance, M. A. (2001). De novo partial duplication of chromosome 7p in a male with autistic disorder. Am J Med Genet, 105(3), 222–225. https://doi.org/10.1002/ajmg.1258
Wolpert, C. M., S. L. Donnelly, M. L. Cuccaro, D. J. Hedges, C. P. Poole, H. H. Wright, J. R. Gilbert, and M. A. Pericak-Vance. “De novo partial duplication of chromosome 7p in a male with autistic disorder.” Am J Med Genet 105, no. 3 (April 8, 2001): 222–25. https://doi.org/10.1002/ajmg.1258.
Wolpert CM, Donnelly SL, Cuccaro ML, Hedges DJ, Poole CP, Wright HH, et al. De novo partial duplication of chromosome 7p in a male with autistic disorder. Am J Med Genet. 2001 Apr 8;105(3):222–5.
Wolpert, C. M., et al. “De novo partial duplication of chromosome 7p in a male with autistic disorder.” Am J Med Genet, vol. 105, no. 3, Apr. 2001, pp. 222–25. Pubmed, doi:10.1002/ajmg.1258.
Wolpert CM, Donnelly SL, Cuccaro ML, Hedges DJ, Poole CP, Wright HH, Gilbert JR, Pericak-Vance MA. De novo partial duplication of chromosome 7p in a male with autistic disorder. Am J Med Genet. 2001 Apr 8;105(3):222–225.

Published In

Am J Med Genet

DOI

10.1002/ajmg.1258

ISSN

0148-7299

Publication Date

April 8, 2001

Volume

105

Issue

3

Start / End Page

222 / 225

Location

United States

Related Subject Headings

  • Pregnancy
  • Nuclear Family
  • Male
  • In Situ Hybridization, Fluorescence
  • Humans
  • Gene Duplication
  • Female
  • Family Health
  • Chromosomes, Human, Pair 7
  • Chromosome Banding