title: Autosomal folate sensitive fragile sites in normal and mentally retarded individuals in Greece.
abstract: The frequencies of autosomal folate sensitive fragile sites were compared in populations of mentally retarded fra(X) negative (N = 220) and normal children (N = 76) in Greece. In addition, the frequency of autosomal fragile sites was studied in 20 known fra(X) children in order to test if the fra(X) syndrome is associated with general chromosome instability. The frequencies of both common and rare autosomal fragile sites did not differ significantly between the mentally retarded and the normal children, although the rate of expression was considerably higher in the retarded group. Autosomal fragile sites were not increased in the fra(X) patients. Fra(3)(p14) was by far the most frequent one in all groups. The frequency of fra(6)(q26) was found to be considerably higher among the mentally retarded children, this difference being almost statistically significant. Further cytogenetic studies of normal and retarded individuals are required in order to elucidate this point further.
authors.affiliation: 1st Department of Pediatrics, Athens University, Greece.
authors.forename: A
authors.initials: A
authors.lastname: Mavrou
authors.forename: M
authors.initials: M
authors.lastname: Syrrou
authors.forename: C
authors.initials: C
authors.lastname: Tsenghi
authors.forename: C
authors.initials: C
authors.lastname: Metaxotou
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D043283:Chromosome Fragile Sites; D002873:Chromosome Fragility; D002877:Chromosomes, Human / Q000187:drug effects* / Q000648:ultrastructure; D005260:Female; D005492:Folic Acid / Q000494:pharmacology*; D005600:Fragile X Syndrome / Q000235:genetics*; D005787:Gene Frequency; D006115:Greece; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male
chemical_list: D005492:Folic Acid