Partial trisomy 14q due to maternal t(4;14)(p16;q32) in a dysmorphic newborn

Genet Couns. 2011;22(3):287-92.


Partial Trisomy 14q is a rare chromosomal disorder that mostly results from a parental translocation. We report here a newborn boy with partial trisomy 14q and dysmorphic features that are compatible with previously reported cases. Conventional cytogenetic analysis revealed an extra chromosomal segment at the end of the short arm of chromosome 4. In order to determine the origin of this chromosome region we used subtelomeric FISH technique. Based on the results of these cytogenetic studies and the physical examination, this dysmorphic case was diagnosed as partial trisomy of 14q and his karyotype determined as 46 XY, der(4)t(4;14)(p16;q32) resulting from a balanced maternal translocation identified as 46,XX, t(4;14)(p16;q32).

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adult
  • Chromosomes, Human, Pair 14*
  • Craniofacial Abnormalities / genetics*
  • Fatal Outcome
  • Female
  • Hand Deformities, Congenital / genetics*
  • Humans
  • Infant, Newborn
  • Male
  • Syndrome
  • Translocation, Genetic*
  • Trisomy*