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Subtle chromosomal rearrangements in children with unexplained mental retardation.

Authors
Volume
354
Issue
9191
Identifiers
DOI: 10.1016/s0140-6736(99)03070-6
Keywords
  • Male
  • Genetic Testing
  • Female
  • Humans
  • Fluorescence
  • Child
  • Adult
  • Adolescent
  • Middle Aged
  • In Situ Hybridization
  • Gene Frequency
  • Pedigree
  • Gene Rearrangement
  • Chromosome Aberrations
  • Intellectual Disability
  • Karyotyping
  • Chromosome Disorders
  • Craniofacial Abnormalities

Abstract

No explanation for moderate to severe mental retardation is apparent in about 40% of cases. Although small chromosomal rearrangements may account for some undiagnosed cases, a lack of genome-wide screening methods has made it impossible to ascertain the frequency of such abnormalities.

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