Clinical and behavioural profile of a rare variant of klinefelter syndrome-48, XXXY.
Indian J Pediatr
;
2010 Apr; 77(4): 447-449
Article
in English
| 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.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Humans
/
Male
/
Child
/
Developmental Disabilities
/
In Situ Hybridization, Fluorescence
/
Klinefelter Syndrome
/
Aneuploidy
Language:
English
Journal:
Indian J Pediatr
Year:
2010
Type:
Article
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