De novo partial trisomy of chromosome 18(pter yields q11:). Some observations on the phenotype mapping of chromosome 18 imbalances

Ann Genet. 1979;22(3):165-7.

Abstract

An infant with a partial trisomy 18(pter yields q11:) is described. The patient's phenotype consists of many features of complete trisomy 18. The findings are compared with those from similar cases reported in the literature permitting to conclude that 18q121-q122 segment is the "critical" zone which when trisomic, causes the severe stigmata (inner organ malformations and early death) of the complete trisomy 18.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Chromosome Mapping
  • Chromosomes, Human, 16-18*
  • Humans
  • Infant
  • Infant, Newborn
  • Karyotyping
  • Male
  • Phenotype
  • Trisomy*