Article
Cohen syndrome and de novo reciprocal translocation t(5;7)(q33.1;p15.1).
American journal of medical genetics - 1 Dec 1990
Fryns J P, Kleczkowska A, Smeets E, Thiry P, Geutjens J, Van den Berghe H
Abstract excerpt
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 7p1...
Topics
- Abnormalities, Multiple
- Adolescent
- Chromosomes, Human, Pair 5
- Chromosomes, Human, Pair 7
- Female
- Genes, Recessive
- Humans
- Incisor
- Intellectual Disability
- Muscle Hypotonia
- Mutation
- Obesity
- Syndrome
- Translocation, Genetic