1.
Ann Genet
; 29(1): 59-61, 1986.
Article
in English
| MEDLINE
| ID: mdl-3487280
ABSTRACT
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.
Subject(s)
Chromosome Fragility , Folic Acid/pharmacology , Fragile X Syndrome/genetics , Sex Chromosome Aberrations/genetics , Chromosome Fragile Sites , Female , Humans , Intellectual Disability/genetics , Male , Phenotype
2.
Pediatria (Napoli)
; 91(2-3): 241-50, 1983.
Article
in Italian
| MEDLINE
| ID: mdl-6420768
Subject(s)
Abnormalities, Multiple/genetics , Chromosome Fragility , Intellectual Disability/genetics , Sex Chromosome Aberrations , X Chromosome , Bone and Bones/abnormalities , Child , Child, Preschool , Chromosome Fragile Sites , Ear, External/abnormalities , Eye Abnormalities , Female , Genitalia, Male/abnormalities , Humans , Hypertelorism , Macroglossia , Male
3.
Ann Genet
; 25(2): 116-8, 1982.
Article
in English
| MEDLINE
| ID: mdl-6984627
