Duplication or insertion in 15q11-13 associated with mental retardation-short stature and obesity-Prader-Willi or Cohen syndrome?
Difficulties of differential diagnosis between Prader-Willi Syndrome and Cohen Syndrome are demonstrated in a 12-year-old girl with obesity and mental retardation. Cytogenetic studies showed an apparently supernumerary band on chromosome 15 in the proximal region q11-13. Both parents have a normal karyotype. The aberrant chromosome was derived from an apparently normal paternal chromosome.
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D002648:Child; D002869:Chromosome Aberrations; D002901:Chromosomes, Human, 13-15; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D009765:Obesity / Q000235:genetics; D011218:Prader-Willi Syndrome / Q000175:diagnosis* / Q000235:genetics