Ring chromosome 16: a new case

Ann Genet. 1990;33(1):36-9.

Abstract

A 46,XX,r(16) "de novo" karyotype is reported in a 4 7/12-year-old girl. In spite of the mild cranio-facial dysmorphism without visceral malformations in r(16) patients, the proband's phenotype is similar to the other four previous case reports. This could support the hypothesis of a specific "r(16) syndrome".

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Cells, Cultured
  • Child, Preschool
  • Chromosome Aberrations* / genetics*
  • Chromosome Disorders*
  • Chromosomes, Human, Pair 16 / ultrastructure*
  • Female
  • Humans
  • Intellectual Disability / genetics
  • Lymphocytes / ultrastructure
  • Psychomotor Disorders / genetics
  • Ring Chromosomes*
  • Seizures / genetics