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Clin Dysmorphol. 2007 Apr;16(2):127-9.

Prader-Willi and Klinefelter syndrome: a coincidence or not?

Author information

1
Department of Clinical Genetics, University Hospitals of Leicester, NHS Trust Leicester Royal Infirmary, Leicester, Leicestershire, UK. pradeepcv@yahoo.com

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.

PMID:
17351360
DOI:
10.1097/MCD.0b013e32801472cf
[Indexed for MEDLINE]
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