Concurrence of ring 21 and trisomy 21 in children of normal parents

Yonsei Med J. 2005 Apr 30;46(2):284-8. doi: 10.3349/ymj.2005.46.2.284.

Abstract

We present a case of two siblings with different chromosome 21 abnormalities that are both de novo [r(21)/i(21p13) mosaicism and rob(14;21)]. Molecular studies using polymorphic markers have shown that these two aberrations had a common maternal origin. However, the parents were cytogenetically and phenotypically normal. This unusual association has not been reported and is considered to be a unique case that should be addressed.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Chromosome Aberrations*
  • Chromosomes, Human, Pair 21*
  • Cytogenetic Analysis
  • Down Syndrome*
  • Female
  • Gene Deletion*
  • Humans
  • Intellectual Disability / genetics
  • Karyotyping
  • Mosaicism
  • Mothers
  • Parents
  • Siblings*