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

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.
AuthorsA Fuhrmann-Rieger, A Köhler, W Fuhrmann
JournalClinical genetics (Clin Genet) Vol. 25 Issue 4 Pg. 347-52 (Apr 1984) ISSN: 0009-9163 [Print] Denmark
PMID6713711 (Publication Type: Case Reports, Comparative Study, Journal Article)
Topics
  • Abnormalities, Multiple (diagnosis, genetics)
  • Child
  • Chromosome Aberrations
  • Chromosomes, Human, 13-15
  • Diagnosis, Differential
  • Female
  • Humans
  • Intellectual Disability (genetics)
  • Obesity (genetics)
  • Prader-Willi Syndrome (diagnosis, genetics)

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