Submicroscopic deletion of chromosome region 16p13.3 in a Japanese patient with Rubinstein-Taybi syndrome

Am J Med Genet. 1994 Dec 1;53(4):352-4. doi: 10.1002/ajmg.1320530409.

Abstract

In a series of 25 Japanese patients with Rubinstein-Taybi syndrome, we screened, by high-resolution GTG banding and fluorescence in situ hybridization of a cosmid probe (RT1, D16S237), for microdeletions associated with this syndrome. In one patient, a microdeletion was demonstrated by in situ hybridization, but none were detected by high-resolution banding.

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Cheek
  • Child
  • Child, Preschool
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 16*
  • Cytogenetics / methods
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant
  • Japan / epidemiology
  • Male
  • Mouth Mucosa*
  • Pregnancy
  • Rubinstein-Taybi Syndrome / epidemiology
  • Rubinstein-Taybi Syndrome / genetics*