Partial 2p trisomy (p21 leads to pter) in two siblings of a family with a 2p-:15q+ translocation

Clin Genet. 1978 Jan;13(1):17-24.

Abstract

Partial 2p trisomy was diagnosed (by the G-banding method) in two sibs with multiple congenital defects. Their father showed a balanced translocation 46,XY,rcp(2;15)(p21;q26) (so the patients were the result of a paternal adjacent-1 meiotic segregation). The clinical features of the two affected cases are compared with other cases previously reported of partial 2p trisomy in order to individualize the syndrome.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Child, Preschool
  • Chromosomes, Human, 1-3*
  • Chromosomes, Human, 13-15*
  • Female
  • Humans
  • Male
  • Meiosis
  • Pedigree
  • Translocation, Genetic*
  • Trisomy*