Mosaic 13 trisomy due to de novo 13/13 translocation with subsequent fission. Karyotype: 46,XX, - 13, + t(13;13)(p11;q11)/46,XX,del(13)(p11)

Hum Genet. 1979 Jan 25;46(2):237-41. doi: 10.1007/BF00291927.

Abstract

A severely retarded child with multiple malformations was found to present a mosaic karyotype 46,XX, - 13,+t(13;13)(p11;q11)/46,XX,del(13)(p11), which probably originated as the result of a de novo 13/13 translocation in a parental gamete, followed by postzygotic fission of the translocation chromosome.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Chromosome Banding
  • Chromosomes, Human, 13-15*
  • Female
  • Humans
  • Infant
  • Intellectual Disability / genetics*
  • Karyotyping
  • Mosaicism*
  • Translocation, Genetic
  • Trisomy*