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Digitale Medien

Prader-Willi syndrome in a child with XYY (1999)

Honma, A. ; Ishii, R. ; Ito, A. ; [weitere]

Springer

Journal of human genetics 44 (1999), S. 412-413

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Details

ISSN: 1435-232X

Schlagwort(e): Key words XYY syndrome ; Prader-Willi syndrome ; Uniparental maternal disomy ; Non-disjunction of chromosome

Quelle: Springer Online Journal Archives 1860-2000

Thema: Biologie , Medizin

Notizen: Abstract We report a 26-month-old boy with XYY syndrome, with the complication of Prader-Willi syndrome (PWS) due to uniparental maternal disomy of chromosome 15. To our knowledge, this is the first case of XYY syndrome and PWS. Clinical findings were fully compatible with the diagnostic criteria for PWS. Molecular analysis revealed a maternal heterodisomy of chromosome 15, indicating that non-disjunction of chromosome 15 had occurred at maternal meiosis I, and that the non-disjunction of chromosome Y and of chromosome 15 had occurred independently.

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1007/s100380050189

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