De novo highly complex chromosome rearrangement (CCR) involving five breakpoints with congenital anomalies analyzed by FISH

Genet Couns. 1999;10(3):259-64.

Abstract

We report on a child with ptosis, epicanthal folds, depressed nasal bridge, carp-shaped mouth, low set ears, hirsutism, pectus excavatum, and developmental and language delay presenting with a balanced complex chromosomal rearrangement (CCR). R- and G-banding methods and fluorescence in situ hybridization were used to document that this is a complex translocation with five breakpoints involving chromosomes 1, 7, 10 and 21.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Cell Culture Techniques
  • Chromosome Banding
  • Chromosomes, Human, Pair 1 / genetics
  • Chromosomes, Human, Pair 10 / genetics
  • Chromosomes, Human, Pair 21 / genetics
  • Chromosomes, Human, Pair 7 / genetics
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant
  • Lymphocytes
  • Translocation, Genetic / genetics*