Interstitial 7q deletion [46,XX,del(7)(pter----q21.1::q22----qter)] and the location of genes for beta-glucuronidase and cystic fibrosis

Am J Med Genet. 1988 Nov;31(3):655-61. doi: 10.1002/ajmg.1320310321.

Abstract

We report on a patient with a de novo chromosome abnormality del(7)(q21.1q22). The cells of this patient were used to determine the assignment of the gene for the enzyme beta-glucuronidase and the DNA probes around the cystic fibrosis gene--pJ3.11 and metH. Both the beta-glucuronidase gene and the DNA probes pJ3.11 and metH were found in 2 copies in our patient, indicating that neither locus lies in the deleted segment.

Publication types

  • Case Reports

MeSH terms

  • Chromosome Deletion*
  • Chromosome Mapping*
  • Chromosomes, Human, Pair 7 / ultrastructure*
  • Cystic Fibrosis / genetics*
  • DNA Probes
  • Female
  • Glucuronidase / genetics*
  • Glucuronidase / metabolism
  • Humans
  • Infant
  • Karyotyping

Substances

  • DNA Probes
  • Glucuronidase