Wolf-Hirschhorn syndrome with cryptic 4p16.3 deletion and balanced/unbalanced mosaicism in the mother

Ann Genet. 1998;41(2):73-6.


We present here a 6-year-old girl with the clinical signs of Wolf-Hirschhorn syndrome (WHS). Only after FISH studies the suspected 4p16.3 deletion could be confirmed. FISH studies in the mother showed that she was carrier of a balanced/unbalanced mosaicism with a 4p/16p translocation in 60% of the cells, and 4p16.3 deletion in 40% of the cells.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adult
  • Child
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 4*
  • Craniofacial Abnormalities / genetics
  • Family Health
  • Female
  • Humans
  • Karyotyping
  • Mosaicism*
  • Mothers
  • Psychomotor Performance / physiology
  • Syndrome