Cohen syndrome and de novo reciprocal translocation t(5;7)(q33.1;p15.1).
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.
Fryns
J P
JP
Center for Human Genetics, University of Leuven, Belgium.
Kleczkowska
A
A
Smeets
E
E
Thiry
P
P
Geutjens
J
J
Van den Berghe
H
H
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D002895:Chromosomes, Human, Pair 5; D002897:Chromosomes, Human, Pair 7; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007180:Incisor / Q000002:abnormalities; D008607:Intellectual Disability / Q000235:genetics*; D009123:Muscle Hypotonia / Q000235:genetics*; D009154:Mutation; D009765:Obesity / Q000235:genetics*; D013577:Syndrome; D014178:Translocation, Genetic