Partial trisomy 7q in two siblings

Ann Genet. 1983;26(2):100-2.

Abstract

Trisomy for 7q32 leads to 7qter and monosomy for 9p24 leads to 9pter is observed in a sister and a brother, due to a balanced reciprocal translocation between the long arm of the chromosome 7 and the short arm of the chromosome 9 in the mother. The siblings are retarded mentally as well as in statomotoric development. This paper discusses the correlation between chromosomal states and certain deformities in patients with trisomies of different segments of 7q.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adolescent
  • Child, Preschool
  • Chromosomes, Human, 6-12 and X / ultrastructure*
  • Female
  • Humans
  • Intellectual Disability / genetics*
  • Karyotyping
  • Male
  • Pedigree
  • Trisomy*