X-linked disorders among patients with suspected genetic disorders attending the genetic clinic in Alexandria
Alexandria Journal of Pediatrics. 2006; 20 (1): 169-175
em Inglês
| IMEMR
| ID: emr-75672
ABSTRACT
A total of 1825 patients referred to the Genetics Clinic, Medical Research Institute, Alexandria University were assessed to determine the frequency of X-linked disorders. It was found that 3.0% [55/1825 cases; 52 males and 3 females] had X-linked disorders; 31.0% [17/55] had fragile X-syndrome 21.8% [12/55] had androgen insensitivity syndrome, 14.5% [8/55] had muscular dystrophy, 14.5% [8/55] had biochemical disorders and 18.2% [10/55] had X-linked syndromes. The frequency of consanguinity among parents of cases with X-linked disorders was 29.1%. Positive family history was detected in 29.1% of cases. These findings are crucial for geneticists and genetic counsellers in their evaluation, diagnosis, counseling and management of patients
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Índice:
IMEMR (Mediterrâneo Oriental)
Assunto principal:
Testes Genéticos
/
Reação em Cadeia da Polimerase
/
Consanguinidade
/
Análise Citogenética
/
Eletroencefalografia
/
Eletroforese
/
Aconselhamento Genético
Limite:
Feminino
/
Humanos
/
Masculino
Idioma:
Inglês
Revista:
Alex. J. Pediatr.
Ano de publicação:
2006
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