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Case Reports
. 1984 Apr;25(4):347-52.
doi: 10.1111/j.1399-0004.1984.tb02002.x.

Duplication or insertion in 15q11-13 associated with mental retardation-short stature and obesity-Prader-Willi or Cohen syndrome?

Case Reports

Duplication or insertion in 15q11-13 associated with mental retardation-short stature and obesity-Prader-Willi or Cohen syndrome?

A Fuhrmann-Rieger et al. Clin Genet. 1984 Apr.

Abstract

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.

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