Interstitial deletion 2p accompanied by marker chromosome formation of the deleted segment resulting in a stable acentric marker chromosome

Genet Couns. 1997;8(4):341-3.

Abstract

We reexamined a moderately mentally retarded patient with mild dysmorphism previously described with de novo 47,XY, del(2)(p11;p21), +acefr. Using fluorescence in situ hybridization (FISH), we now confirm the chromosome 2 nature of the extra marker resulting from interstitial deletion of del(2)(p11;p21) as well the lack alpha satellite DNA pattern. The authors suggest that a reactivation process of a latent centromere may explain the origin of this stable extra marker.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adult
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 2*
  • Genetic Markers
  • Humans
  • In Situ Hybridization, Fluorescence
  • Intellectual Disability / genetics*
  • Male

Substances

  • Genetic Markers