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The evolving picture of microdeletion/microduplication syndromes in the age of microarray analysis: variable expressivity and genomic complexity.

Publication ,  Journal Article
Deak, KL; Horn, SR; Rehder, CW
Published in: Clin Lab Med
December 2011

Several new microdeletion and microduplication syndromes have been discovered in a genotype-first approach. Many of these disorders are caused by nonallelic homologous recombination between blocks of segmental duplication. The authors describe 9 regions for which copy number alteration is proposed to cause an abnormal phenotype. Some of these disorders have been observed in affected individuals and individuals lacking a clearly abnormal phenotype. These deletions and duplications are thought to be contributory, but not always sufficient, to elicit an abnormal outcome. Additional studies are necessary to further evaluate the penetrance and delineate the clinical spectrum associated with many of these newly described disorders.

Duke Scholars

Published In

Clin Lab Med

DOI

EISSN

1557-9832

Publication Date

December 2011

Volume

31

Issue

4

Start / End Page

543 / viii

Location

United States

Related Subject Headings

  • Syndrome
  • Pathology
  • Oligonucleotide Array Sequence Analysis
  • Humans
  • Gene Duplication
  • Gene Deletion
  • Cytogenetic Analysis
  • Chromosome Disorders
  • Chromosome Aberrations
  • 3202 Clinical sciences
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Deak, K. L., Horn, S. R., & Rehder, C. W. (2011). The evolving picture of microdeletion/microduplication syndromes in the age of microarray analysis: variable expressivity and genomic complexity. Clin Lab Med, 31(4), 543–viii. https://doi.org/10.1016/j.cll.2011.08.008
Deak, Kristen L., Sarah R. Horn, and Catherine W. Rehder. “The evolving picture of microdeletion/microduplication syndromes in the age of microarray analysis: variable expressivity and genomic complexity.Clin Lab Med 31, no. 4 (December 2011): 543–viii. https://doi.org/10.1016/j.cll.2011.08.008.
Deak, Kristen L., et al. “The evolving picture of microdeletion/microduplication syndromes in the age of microarray analysis: variable expressivity and genomic complexity.Clin Lab Med, vol. 31, no. 4, Dec. 2011, pp. 543–viii. Pubmed, doi:10.1016/j.cll.2011.08.008.
Journal cover image

Published In

Clin Lab Med

DOI

EISSN

1557-9832

Publication Date

December 2011

Volume

31

Issue

4

Start / End Page

543 / viii

Location

United States

Related Subject Headings

  • Syndrome
  • Pathology
  • Oligonucleotide Array Sequence Analysis
  • Humans
  • Gene Duplication
  • Gene Deletion
  • Cytogenetic Analysis
  • Chromosome Disorders
  • Chromosome Aberrations
  • 3202 Clinical sciences