Prader-Willi syndrome in a child with XYY.
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.
Honma
A
A
Department of Pediatrics, Yamagata Medical Rehabilitation Center for Disabled Persons, Japan. a-honma@ma.catvy.ne.jp
Ishii
R
R
Ito
A
A
Kato
M
M
Saitoh
S
S
Hayasaka
K
K
D002675:Child, Preschool; D005260:Female; D006801:Humans; D008297:Male; D011218:Prader-Willi Syndrome / Q000175:diagnosis / Q000235:genetics*; D013577:Syndrome; D014997:XYY Karyotype / Q000175:diagnosis / Q000235:genetics*