Partial trisomy and partial monosomy resulting from a reciprocal segregating in a large family

Indian J Pediatr. 2008 Sep;75(9):956-60. doi: 10.1007/s12098-008-0093-7.

Abstract

Partial trisomy 7p with partial monosomy 9p is a rare disorder with only 3 cases reported. Both these abnormalities i.e., partial trisomy 7p and partial monosomy 9p result in distinct clinical phenotypes. However, patients with combined 7p trisomy/9p monosomy present with a phenotype consistent with trisomy 7p. We present a fourth case of trisomy 7p/monosomy 9p with long term follow-up and document the medical complications associated with this disorder. Long term follow-up of patients with chromosome abnormalities provides a unique opportunity to document the medical history and complications associated with such abnormalities.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Child, Preschool
  • Chromosome Deletion
  • Chromosomes, Human, Pair 7 / genetics*
  • Chromosomes, Human, Pair 9 / genetics*
  • Cytogenetic Analysis
  • Developmental Disabilities / genetics*
  • Follow-Up Studies
  • Humans
  • Karyotyping
  • Male
  • Monosomy / genetics*
  • Phenotype
  • Translocation, Genetic / genetics*
  • Trisomy / genetics*