Duplication or insertion in 15q11–13 associated with mental retardation ‐short stature and obesity ‐ Prader‐Willi or Cohen syndrome?
- 22 April 1984
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 25 (4), 347-352
- https://doi.org/10.1111/j.1399-0004.1984.tb02002.x
Abstract
Difficulties of differential diagnosis between Prader-Willi Syndrome and Cohen Syndrome are demonstrated in a 12 yr 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.Keywords
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