Exclusion mapping of the Cohen syndrome gene from the Prader-Willi syndrome locus

Clin Genet. 1990 Dec;38(6):422-6. doi: 10.1111/j.1399-0004.1990.tb03607.x.


Karyotype and DNA analyses using DNA probes were carried out in a family with the Cohen syndrome. Two affected brothers had normal chromosomal constitutions. A major deletion or duplication of genomic DNA fragments hybridized with the DNA probes, pML34 at D15S9 locus and pTD3-21 at D15S10 locus, assigned on 15q11-q12 was not detected in the patients. In addition, a linkage of the syndrome to D15S9 and D15S10 loci was not observed in the family. These data suggest that a gene for the Cohen syndrome is excluded from the 15q11-q12 region, on which a gene for the Prader-Willi syndrome is assigned, and that the Cohen syndrome is distinctly different from the Prader-Willi syndrome, although clinical manifestations of the Cohen and the Prader-Willi syndromes are very similar.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child
  • Chromosome Aberrations / genetics*
  • Chromosome Disorders
  • Chromosome Mapping*
  • Consanguinity
  • DNA Probes
  • Genetic Linkage / genetics
  • Humans
  • Intellectual Disability / genetics*
  • Male
  • Muscle Hypotonia / genetics*
  • Obesity / genetics*
  • Pedigree
  • Polymorphism, Restriction Fragment Length
  • Prader-Willi Syndrome / genetics*
  • Retinitis Pigmentosa / genetics


  • DNA Probes