[Mosaic trisomy 14 due to an iso dicentric chromosome (author's transl)]

Ann Genet. 1980;23(4):238-40.
[Article in French]


Mosaic trisomy 14 due to a de novo formation of an iso dicentric chromosome 14 was observed in a male negro infant who died at the age of one week. Together with three previous reports in the literature of mosaic trisomy 14, this observation allows the delineation of a syndrome characterized by intrauterine growth retardation ; craniofacial dysmorphism with frontal bossing ; hypertelorism ; microretrognathia, small, lowset, abnormally folded ears ; a translucent film over the eyes ; and congenital heart disease.

Publication types

  • English Abstract

MeSH terms

  • Chromosome Aberrations
  • Chromosomes, Human, 13-15*
  • Female
  • Fetal Growth Retardation / genetics*
  • Humans
  • Infant, Newborn
  • Male
  • Mosaicism*
  • Pregnancy
  • Trisomy*