Clinical and behavioural profile of a rare variant of klinefelter syndrome-48, XXXY.
Indian J Pediatr
;
2010 Apr; 77(4): 447-449
Article
Dans Anglais
| IMSEAR
| ID: sea-142557
ABSTRACT
Klinefelter’s syndrome is a sex chromosomal aneuploidy caused by an addition of X chromosome in males (47,XXY).Variants of this syndrome with X and Y polygamy are of rare occurrence. Here we describe a rare case of 48, XXXY Klinefelter’s variant from South India with a reported incidence of 1 per 17,000 to 1 per 50,000 male births. The presence of an extra X chromosome/s in these individuals has a great impact on the physical and cognitive functions, which could be attributed to gene dosage effects and genes involved in neurogenic development.
Texte intégral:
Disponible
Indice:
IMSEAR (Asie du Sud-Est)
Sujet Principal:
Humains
/
Mâle
/
Enfant
/
Incapacités de développement
/
Hybridation fluorescente in situ
/
Syndrome de Klinefelter
/
Aneuploïdie
langue:
Anglais
Texte intégral:
Indian J Pediatr
Année:
2010
Type:
Article
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