A complex chromosome rearrangement with 10 breakpoints: tentative assignment of the locus for Williams syndrome to 4q33----q35.1

J Med Genet. 1992 Apr;29(4):253-5. doi: 10.1136/jmg.29.4.253.

Abstract

An unbalanced complex chromosome rearrangement with 10 breakpoints resulting in four derivative chromosomes (1, 2, 4, and 11) was found in a girl with severe phenotypic abnormalities, many of which are characteristic of Williams syndrome. The patient was monosomic for the region 4q33----q35.1 and thus the mapping of the syndrome could tentatively be restricted to this region.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Brain / abnormalities
  • Child, Preschool
  • Chromosome Aberrations*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 4*
  • Face / abnormalities*
  • Female
  • Heart Defects, Congenital / genetics
  • Humans
  • Intellectual Disability / genetics
  • Karyotyping
  • Monosomy
  • Syndrome