In situ hybridization and translocation breakpoint mapping. III. DiGeorge syndrome with partial monosomy of chromosome 22

Cytogenet Cell Genet. 1985;39(3):179-83. doi: 10.1159/000132131.

Abstract

We have performed in situ hybridization of a probe for the lambda IGLC constant region to metaphase spreads from two DiGeorge syndrome (DGS)-related chromosomal rearrangements with breakpoints in 22q11. In this study we have demonstrated that the breakpoints are proximal to the lambda IGLC constant region cluster. Thus, at the molecular level, DGS-related breakpoints can be distinguished from the 22q11 breakpoint of CML, but not from the 8;22 translocation of Burkitt lymphoma or from the 21;22 translocations that we have previously studied.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Cell Line
  • Chromosome Banding
  • Chromosome Deletion*
  • Chromosome Mapping
  • Chromosomes, Human, 21-22 and Y*
  • DiGeorge Syndrome / genetics*
  • Genes
  • Humans
  • Immunoglobulin Light Chains / genetics*
  • Immunoglobulin lambda-Chains / genetics*
  • Immunologic Deficiency Syndromes / genetics*
  • Karyotyping
  • Monosomy*
  • Nucleic Acid Hybridization
  • Translocation, Genetic*

Substances

  • Immunoglobulin Light Chains
  • Immunoglobulin lambda-Chains