Ring-14 and trisomy 14q in the same child

Ann Genet. 1984;27(1):38-40.

Abstract

The case of a male child with three cell lines is described: one cell line with ring chromosome 14, another trisomic for 14q, due to a derived metacentric 14q;14q, and a third one with a normal male karyotype. The clinical findings are compatible with those of the r(14) syndrome.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Chromosome Aberrations*
  • Chromosomes, Human, 13-15 / ultrastructure*
  • Humans
  • Infant
  • Karyotyping
  • Male
  • Metaphase
  • Phenotype
  • Syndrome
  • Trisomy*