1.
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.
Subject(s)
Aneuploidy , Child , Developmental Disabilities/complications , Humans , In Situ Hybridization, Fluorescence , Klinefelter Syndrome/complications , Klinefelter Syndrome/diagnosis , Klinefelter Syndrome/genetics , Male
2.
Korean Journal of Blood Transfusion
;
: 60-64, 2003.
Article
in English
| WPRIM
| ID: wpr-125165