Clinical and behavioural profile of a rare variant of klinefelter syndrome-48, XXXY.
Indian J Pediatr
;
2010 Apr; 77(4): 447-449
Artigo
em Inglês
| 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.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Humanos
/
Masculino
/
Criança
/
Deficiências do Desenvolvimento
/
Hibridização in Situ Fluorescente
/
Síndrome de Klinefelter
/
Aneuploidia
Idioma:
Inglês
Revista:
Indian J Pediatr
Ano de publicação:
2010
Tipo de documento:
Artigo
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