title: Prader-Willi and Klinefelter syndrome: a coincidence or not?
abstract: Prader-Willi syndrome is a complex multisystem disorder characterized by neonatal hypotonia, developmental delay, short stature, obesity, behaviour problems, hypothalamic hypogonadism and characteristic appearance. A number of sex chromosome abnormalities have been reported in children with Prader-Willi syndrome. We report on an infant with a 47, XXY karyotype and Prader-Willi syndrome diagnosed at 2 months of age. He is possibly the youngest to be reported with both Prader-Willi syndrome and Klinefelter syndrome. We have shown that the extra X chromosome causing Klinefelter syndrome is paternal in origin and Prader-Willi syndrome is due to maternal heterodisomy indicating that these two events occurred coincidentally.
authors.affiliation: Department of Clinical Genetics, University, Hospitals of Leicester NHS Trust Leicester royal Infirmary, Leicester, Leicestershire Department of Clinical Genetics, Sheffield Children's Hospital, Sheffield, South Yorkshire, UK.
authors.forename: Pradeep C
authors.initials: PC
authors.lastname: Vasudevan
authors.forename: Oliver W J
authors.initials: OWJ
authors.lastname: Quarrell
mesh_terms: D000782:Aneuploidy; D006801:Humans; D007223:Infant; D007713:Klinefelter Syndrome / Q000150:complications* / Q000235:genetics; D008297:Male; D011218:Prader-Willi Syndrome / Q000150:complications* / Q000235:genetics; D012730:Sex Chromosomes / Q000235:genetics