Townes-Brocks syndrome in an infant with translocation t (5;16)

Genet Couns. 1993;4(2):109-12.


We report the occurrence of Townes-Brocks syndrome (TBS) in an infant with a two break reciprocal translocation between chromosome 5 and chromosome 16. The occurrence of both abnormalities in the same subject could be due to chance. However, it is of interest to note that a familial case of TBS associated with an inv(16) with the same breakpoint at 16q12.1 has been reported. We suggest the possible disruption of the TBS gene at this breakpoint.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics*
  • Anus, Imperforate / genetics
  • Chromosomes, Human, Pair 16*
  • Chromosomes, Human, Pair 5*
  • Ear, External / abnormalities
  • Female
  • Hearing Loss / genetics
  • Humans
  • Infant, Newborn
  • Karyotyping
  • Radiography
  • Syndrome
  • Thumb / abnormalities
  • Thumb / diagnostic imaging
  • Translocation, Genetic*