1.
Ann Genet
; 29(1): 59-61, 1986.
Artigo
em Inglês
| MEDLINE
| ID: mdl-3487280
RESUMO
The authors analyse the expression of all the folate-sensitive fra sites in a sample of 24 male patients with Martin-Bell syndrome (MBS) and their 12 mothers distributed in 10 kindreds. The cytogenetic results are compared with that of a control group, constituted by 8 unrelated normal subjects. Except for the fra Xq27, there was no autosomal folate-sensitive fra site significantly more expressed in patients with MBS than in the control group. On the basis of the present cytogenetic sample of about 6 500 R-banded mitoses, a list of all the in vitro folate-sensitive fra sites and their relative frequencies is given.
Assuntos
Fragilidade Cromossômica , Ácido Fólico/farmacologia , Síndrome do Cromossomo X Frágil/genética , Aberrações dos Cromossomos Sexuais/genética , Sítios Frágeis do Cromossomo , Feminino , Humanos , Deficiência Intelectual/genética , Masculino , Fenótipo
2.
Ann Genet
; 25(2): 116-8, 1982.
Artigo
em Inglês
| MEDLINE
| ID: mdl-6984627
3.
Pediatria (Napoli)
; 91(2-3): 241-50, 1983.
Artigo
em Italiano
| MEDLINE
| ID: mdl-6420768