[Familial observation of partial trisomy 6, and probable partial monosomy 18q by parental translocation]

J Genet Hum. 1982 Mar;30(1):39-50.
[Article in French]


Partial trisomy 6q (6q23 leads to qter), resulting from a non-balanced translocation 6/18, was detected in a child and his paternal uncle. Features of note in the uncle included micrognathia, scoliosis and mild mental retardation. The child presented a moderate hypertelorism, a flat nose bridge, carp-shaped mouth and minimal cutaneous syndactyly of the 2nd-3rd toes. These clinical signs have also been mentioned in the few cases of partial trisomy 6q described in the literature. In addition, our two patients present a cubital deviation of the fingers and, in the uncle, urinary tract malformations. The transmission of the 6/18 translocation in this family is discussed.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Child
  • Chromosome Aberrations*
  • Chromosomes, Human, 16-18*
  • Chromosomes, Human, 6-12 and X*
  • Female
  • Humans
  • Infant, Newborn
  • Karyotyping
  • Male
  • Pedigree
  • Translocation, Genetic*
  • Trisomy*