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J Med Genet ; 24(11): 678-83, 1987 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-3430542

RESUMO

We describe the inherited folate sensitive fragile site, fra(2)(q13), in three unrelated mentally retarded children, two of them with different forms of epilepsy. Fra(2)(q13) was detected in one healthy sib of one of the probands. Except for one cell in one of the fathers, fra(2)(q13) could not be detected in any of the six parents, who were repeatedly studied using methods known to induce fragile sites of this type. These findings suggest that fra(2)(q13) is not associated with the clinical features of our patients and can be transmitted by persons not expressing it. The expression of fra(2)(q13) may be age dependent.


Assuntos
Fragilidade Cromossômica , Cromossomos Humanos Par 2 , Epilepsia/genética , Triagem de Portadores Genéticos , Deficiência Intelectual/genética , Criança , Bandeamento Cromossômico , Sítios Frágeis do Cromossomo , Feminino , Regulação da Expressão Gênica , Humanos , Masculino
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