Cohen syndrome and de novo reciprocal translocation t(5;7)(q33.1;p15.1)

Am J Med Genet. 1990 Dec;37(4):546-7. doi: 10.1002/ajmg.1320370425.


Here we report on a de novo apparently balanced reciprocal 5q;7p translocation in a 15-year-old girl with apparent Cohen syndrome characterized by hypotonia, obesity, multiple congenital anomalies, and mental retardation. This case may indicate that the gene for Cohen syndrome is at 5q33.1 or 7p15.1.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adolescent
  • Chromosomes, Human, Pair 5*
  • Chromosomes, Human, Pair 7*
  • Female
  • Genes, Recessive
  • Humans
  • Incisor / abnormalities
  • Intellectual Disability / genetics*
  • Muscle Hypotonia / genetics*
  • Mutation
  • Obesity / genetics*
  • Syndrome
  • Translocation, Genetic*