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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Authors | A Fuhrmann-Rieger, A Köhler, W Fuhrmann |
Journal | Clinical genetics
(Clin Genet)
Vol. 25
Issue 4
Pg. 347-52
(Apr 1984)
ISSN: 0009-9163 [Print] Denmark |
PMID | 6713711
(Publication Type: Case Reports, Comparative Study, Journal Article)
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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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