Prader-Willi and Klinefelter syndrome: a coincidence or not?
Clin Dysmorphol
; 16(2): 127-129, 2007 Apr.
Article
in En
| MEDLINE
| ID: mdl-17351360
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Prader-Willi Syndrome
/
Klinefelter Syndrome
Limits:
Humans
/
Infant
/
Male
Language:
En
Journal:
Clin Dysmorphol
Journal subject:
TERATOLOGIA
Year:
2007
Type:
Article
Affiliation country:
United kingdom