Tiling path resolution mapping of constitutional 1p36 deletions by array-CGH: contiguous gene deletion or "deletion with positional effect" syndrome?

J Med Genet. 2005 Feb;42(2):166-71. doi: 10.1136/jmg.2004.023861.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Chromosome Deletion*
  • Chromosome Disorders / diagnosis
  • Chromosome Disorders / genetics*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 1*
  • Female
  • Gene Deletion
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics*
  • Male
  • Monosomy*
  • Oligonucleotide Array Sequence Analysis
  • Syndrome