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

J P Fryns; A Kleczkowska; E Smeets; P Thiry; J Geutjens; H Van den Berghe

doi:10.1002/ajmg.1320370425

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.

Authors

J P Fryns¹, A Kleczkowska, E Smeets, P Thiry, J Geutjens, H Van den Berghe

Affiliation

¹ Center for Human Genetics, University of Leuven, Belgium.

PMID: 2260606
DOI: 10.1002/ajmg.1320370425

Abstract

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*