A BrdU-requiring fragile site on chromosome 12

Hum Genet. 1988 Feb;78(2):183-5. doi: 10.1007/BF00278193.

Abstract

A BrdU-requiring fragile site, fra(12)(q24.2), on human chromosome 12 of some individuals is reported. This fragile site is inherited in a Mendelian codominant fashion and does not seem to be associated with any physical or mental abnormality in carriers. It was mostly observed as a chromatid gap: no acentric fragments, triradials or deleted chromosomes were found. The fra(12)(q24.2) was expressed in 34%-48% of metaphases in lymphocyte cultures from carriers when BrdU and FdU were added 6.5 h before harvest, while the expression ranged between 5% and 20% when the cultures were treated with BrdU alone. The fra(12)(q24.2) represents the second BrdU-requiring rare fragile site described on human chromosomes.

Publication types

  • Case Reports

MeSH terms

  • Bromodeoxyuridine / pharmacology*
  • Child
  • Chromosome Banding
  • Chromosome Fragile Sites
  • Chromosome Fragility*
  • Chromosomes, Human, Pair 12*
  • Female
  • Humans
  • Infant
  • Karyotyping
  • Male
  • Pedigree

Substances

  • Bromodeoxyuridine