Alagille syndrome (arteriohepatic dysplasia) and del(20)(p11.2)

Am J Med Genet. 1990 Apr;35(4):532-5. doi: 10.1002/ajmg.1320350419.

Abstract

We report on a boy with Alagille syndrome. Chromosome analysis on a peripheral blood lymphocyte culture showed a de novo deletion of the short arm of chromosome 20 with a 46,XY,del(20)(p11.2) chromosome constitution. This is the second report of a del(20p) in a patient with Alagille syndrome. The possible localisation of this autosomal dominant syndrome on 20p is discussed.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Cholestasis
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 20*
  • Face / abnormalities
  • Failure to Thrive
  • Humans
  • Infant, Newborn
  • Lymphocytes / cytology
  • Male
  • Pulmonary Valve Stenosis
  • Spine / abnormalities
  • Syndrome