Ring chromosome 10: report on two patients and review of the literature

J Appl Genet. 2013 Feb;54(1):35-41. doi: 10.1007/s13353-012-0128-7. Epub 2012 Dec 18.

Abstract

Ring chromosome 10--r(10)--is a rare disorder, with 14 cases reported in the literature, but only two with breakpoint determination by high-resolution techniques. We report here on two patients presenting a ring chromosome 10, studied by G-banding, fluorescent in situ hybridization (FISH), multiplex ligation-dependent probe amplification (MLPA) and SNP-array techniques, in order to investigate ring instability and determine breakpoints. Patient 1 showed a r(10)(p15.3q26.2) with a 7.9 Mb deletion in 10q26.2-q26.2, while patient 2 showed a r(10)(p15.3q26.13) with a 1.0 Mb deletion in 10p15.3 and a 8.8 Mb deletion in 10q26.13-q26.3, both unstable. While patient 1 presented with clinical features usually found in patients with r(10) and terminal 10q deletion, patient 2 presented characteristics so far not described in other patients with r(10), such as Dandy-Walker variant, osteopenia, semi-flexed legs, and dermal pigmentation regions. Our data and the data from literature show that there are no specific clinical findings to define a r(10) syndrome.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Chromosome Banding
  • Chromosome Deletion
  • Chromosomes, Human, Pair 10 / genetics*
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Male
  • Multiplex Polymerase Chain Reaction
  • Ring Chromosomes

Supplementary concepts

  • Chromosome 10 ring
  • Chromosome 10, monosomy 10q