Trisomy 6qter

Clin Genet. 1981 Mar;19(3):202-6. doi: 10.1111/j.1399-0004.1981.tb00697.x.


A previously reported patient with trisomy for the distal part of 6q was shown by R-banding to be trisomic for 6q26qter, due to a t(6;22)(q26;p12) mat. Altogether nine patients with 6qter trisomy have been reported. The main features of the 6qter trisomy syndrome are: severe mental and growth retardation; acrocephaly and brachycephaly; a carp-shaped mouth; micrognathia; a very short neck with unusual anterior webbing; joint contractures; the absence of severe inner organ malformations; and survival into adulthood.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Child
  • Chromosome Banding
  • Chromosomes, Human, 6-12 and X*
  • Growth Disorders / genetics
  • Humans
  • Intellectual Disability / genetics
  • Male
  • Syndrome
  • Trisomy*