A new heritable fragile site at 15q13 in a three-generation family

Cytogenet Genome Res. 2007;116(4):252-5. doi: 10.1159/000100408.

Abstract

Here, we describe a family ascertained through recurrent spontaneous abortions in which a new heritable fragile site located at 15q13 is segregating. The fragile site was present in nine members of a three-generation family and expressed spontaneously in a high proportion of the metaphases varying from 88 to 95% under standard culture conditions in all the carriers. This didn't change under folate deficiency.

MeSH terms

  • Abortion, Habitual / genetics*
  • Abortion, Spontaneous / genetics*
  • Adult
  • Child
  • Chromosome Fragile Sites / genetics*
  • Chromosome Segregation / genetics
  • Chromosomes, Human, Pair 13 / genetics*
  • Female
  • Folic Acid Deficiency
  • Humans
  • In Situ Hybridization, Fluorescence
  • Male
  • Metaphase
  • Pedigree