Trisomy 6q25 leads to 6qter in two sisters resulting from maternal 6;11 translocation

Am J Med Genet. 1980;5(2):171-8. doi: 10.1002/ajmg.1320050211.

Abstract

Chromosome banding was used to define a partial duplication of the long arm of chromosome 6 (6q25 leads to 6qter) in two profoundly affected sisters and to identify their phenotypically normal mother and sister as balanced translocation carriers whose karyotypes were interpreted as 46,XX,t(6;11) (q25;q25). Prominent clinical features included profound mental retardation, hypertelorism, micrognathia, down-turned mouth, dental anomalies, clubfeet, webbed neck, late progressive scoliosis, flexion contractures, and low total finger ridge count. By comparison with published reports, it has been possible to establish a trisomy 6q25 leads to 6qter syndrome.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Adolescent
  • Adult
  • Chromosome Banding
  • Chromosomes, Human, 6-12 and X / ultrastructure*
  • Dermatoglyphics
  • Female
  • Humans
  • Intellectual Disability / genetics
  • Karyotyping
  • Pedigree
  • Phenotype
  • Scoliosis / genetics
  • Translocation, Genetic
  • Trisomy*