Partial duplication of 3q (q25.1-->q26.1) without the Brachmann-de Lange phenotype

Am J Med Genet. 1993 Nov 15;47(7):1068-71. doi: 10.1002/ajmg.1320470727.

Abstract

Partial duplications of chromosome 3 have previously been reported to have phenotypic characteristics similar to Brachmann-de Lange syndrome (BDLS). We present the case of a 13-year-old girl with an apparent duplication in the 3q25.1-->q26.1 region but none of the manifestations commonly seen in BDLS. The chromosome 3 duplication was confirmed with a FISH painting probe of the involved region. These results suggest that the region critical for Brachmann-de Lange syndrome is not within the duplicated region of 3q25.1-->q26.1.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Chromosome Aberrations*
  • Chromosome Banding
  • Chromosomes, Human, Pair 3*
  • De Lange Syndrome / genetics*
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Phenotype