Molecular mapping of a translocation breakpoint at 14q13 in a patient with mirror-image polydactyly of hands and feet

Hum Genet. 1997 Apr;99(4):450-3. doi: 10.1007/s004390050387.

Abstract

Mirror hands and feet (MIM, 135750) is a rare congenital anomaly, and mirror-image polydactyly is considered to be a variant of mirror hands and feet. To our knowledge, seven patients with the disorder have been reported in the literature. Parent-to-child transmission was reported in two families, which may indicate a single-gene defect inherited in an autosomal dominant fashion. We had previously encountered a boy with mirror-image polydactyly whose karyotype showed 46,XY,t(2;14) (p23.3;q13) de novo. We hypothesized that at least one of the putative genes responsible for the determination of an anterior-posterior limb pattern is disrupted by a translocation breakpoint. In this study, we identified a yeast artificial chromosome clone spanning a translocation breakpoint at 14q13, and the breakpoint was confirmed to be located between two loci, AFM200ZH4 and D14S306, within a genetic distance of 0.6 cM.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Mapping
  • Chromosomes, Artificial, Yeast
  • Chromosomes, Bacterial
  • Chromosomes, Human, Pair 14*
  • Fingers / abnormalities*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Male
  • Polydactyly / genetics*
  • Sequence Tagged Sites
  • Toes / abnormalities*
  • Translocation, Genetic*