Phenotypic and phoniatric findings in mosaic cri du chat syndrome

Am J Med Genet. 1991 Jun 15;39(4):391-5. doi: 10.1002/ajmg.1320390405.


We report on mosaic 46,XY/46,XY,del(5)(p15) cri du chat syndrome. The clinical findings are compared with those compiled from a literature survey. A phoniatric evaluation was performed and compared with that of a cri du chat patient without mosaicism previously observed by the authors.

Publication types

  • Case Reports
  • Comparative Study
  • Review

MeSH terms

  • Chromosome Deletion*
  • Chromosomes, Human, Pair 5*
  • Cri-du-Chat Syndrome / genetics*
  • Humans
  • Infant, Newborn
  • Karyotyping
  • Male
  • Mosaicism / genetics*
  • Phenotype
  • Sound Spectrography