Unexpected high frequency of de novo unbalanced translocations in patients with Wolf-Hirschhorn syndrome (WHS)

J Med Genet. 2000 Oct;37(10):798-804. doi: 10.1136/jmg.37.10.798.
No abstract available

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Alleles
  • Child
  • Child, Preschool
  • Chromosome Banding
  • Chromosome Breakage / genetics
  • Chromosome Deletion
  • Chromosomes, Human, Pair 4 / genetics*
  • Chromosomes, Human, Pair 7 / genetics
  • Chromosomes, Human, Pair 8 / genetics
  • Cosmids
  • Gene Frequency / genetics*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant
  • Intellectual Disability / genetics*
  • Karyotyping
  • Leukocyte L1 Antigen Complex
  • Lymphocytes
  • Male
  • Membrane Glycoproteins / genetics
  • Microsatellite Repeats / genetics
  • Neural Cell Adhesion Molecules / genetics
  • Polymorphism, Genetic / genetics
  • Polymorphism, Single-Stranded Conformational
  • Syndrome
  • Translocation, Genetic / genetics*

Substances

  • Leukocyte L1 Antigen Complex
  • Membrane Glycoproteins
  • Neural Cell Adhesion Molecules