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Titolo:
FRAXA LOCUS IN FRAGILE-X DIAGNOSIS - FAMILY STUDIES, PRENATAL-DIAGNOSIS, AND DIAGNOSIS OF SPORADIC CASES OF MENTAL-RETARDATION
Autore:
VONKOSKULL H; GAHMBERG N; SALONEN R; SALO A; PEIPPO M;
Indirizzi:
HELSINKI UNIV HOSP,DEPT OBSTET,PRENATAL GENET LAB,HAARTMANINKATU 2 SF-00290 HELSINKI FINLAND HELSINKI UNIV HOSP,DEPT GYNECOL SF-00290 HELSINKI FINLAND UNITED LABS LTD HELSINKI FINLAND FAMILY FEDERAT FINLAND,DEPT MED GENET HELSINKI FINLAND
Titolo Testata:
American journal of medical genetics
fascicolo: 4, volume: 51, anno: 1994,
pagine: 486 - 489
SICI:
0148-7299(1994)51:4<486:FLIFD->2.0.ZU;2-H
Fonte:
ISI
Lingua:
ENG
Soggetto:
FULL MUTATION;
Keywords:
FRAGILE X; FRAXA; STB12.3; CARRIER DETECTION; PRENATAL DIAGNOSIS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
10
Recensione:
Indirizzi per estratti:
Citazione:
H. Vonkoskull et al., "FRAXA LOCUS IN FRAGILE-X DIAGNOSIS - FAMILY STUDIES, PRENATAL-DIAGNOSIS, AND DIAGNOSIS OF SPORADIC CASES OF MENTAL-RETARDATION", American journal of medical genetics, 51(4), 1994, pp. 486-489

Abstract

Three hundred eighty-seven individuals from 32 Finnish fragile X families were studied, using the probe StB12.3 [Oberle et al., 1991: Science 252:1097-1102] for the FRAXA locus, to reveal length variations in the FMR-I gene. As expected, the affected individuals (with few exceptions) showed a full mutation; a few affected individuals with a premutation only were found. Seventy percent of the females with a full mutation were affected. The size of the mutation remained unchanged in 6, increased in 73, and decreased in 6 female meioses. In male meioses the size was unchanged in 15 cases, increased in 2 cases, and decreased in 1 case. Prenatal diagnosis was performed in 20 cases. In 7 of thesethe mutation was inherited by the fetus. Four hundred sixty-four mentally retarded patients were referred to us for FRAXA analysis. In 5% of these the fragile X mutation was found. In addition to the clear cutnegative or positive results there were 6 cases in which an increase of 50-80 bp was detected. These findings may represent either large normal alleles or small premutations suggesting a possible tissue mosaicism which could explain the retardation of the patients. (c) 1994 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 29/03/20 alle ore 18:04:16