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Titolo:
MOLECULAR CLINICAL CORRELATIONS IN FEMALES WITH FRAGILE-X/
Autore:
SOBESKY WE; TAYLOR AK; PENNINGTON BF; BENNETTO L; PORTER D; RIDDLE J; HAGERMAN RJ;
Indirizzi:
CHILDRENS HOSP,CHILD DEV UNIT,BOX 140,1056 E 19TH AVE DENVER CO 80218 UNIV DENVER DENVER CO 80210 UNIV COLORADO,HLTH SCI CTR DENVER CO 00000 KIMBALL GENET DENVER CO 00000
Titolo Testata:
American journal of medical genetics
fascicolo: 2, volume: 64, anno: 1996,
pagine: 340 - 345
SICI:
0148-7299(1996)64:2<340:MCCIFW>2.0.ZU;2-G
Fonte:
ISI
Lingua:
ENG
Soggetto:
DIRECT DIAGNOSIS; FULL MUTATION; PHENOTYPE; CARRIERS; DEFICITS; WOMEN; GENE;
Keywords:
FRAGILE X FEMALES; SCHIZOTYPY; NEUROCOGNITIVE DEFICITS; PHYSICAL FINDINGS; CGG REPEATS; X-INACTIVATION RATIO;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
29
Recensione:
Indirizzi per estratti:
Citazione:
W.E. Sobesky et al., "MOLECULAR CLINICAL CORRELATIONS IN FEMALES WITH FRAGILE-X/", American journal of medical genetics, 64(2), 1996, pp. 340-345

Abstract

Females who are affected by fragile X syndrome (FXS) can have significant physical, neuropsychological and emotional involvement. This study was designed to explore the relationships between these three domains and to learn how the degree of involvement in each of these phenotypic areas relates to molecular parameters including CGG repeat length and activation ratio (the proportion of normal FMP1 alleles on the active X chromosome). Three groups of females were studied: 35 women who grew up in a fragile X family but do not carry an FMR1 mutation, 92 women with a premutation, and 29 women with a full mutation. Correlationsbetween neurocognitive, physical and emotional traits were calculatedfor each of the three groups. Within the full mutation group significant correlations were seen between schizotypal traits and full scale IQ. The Lie scale was significantly correlated with the physical findings index. The activation ratio correlated significantly with the measure of executive function (r = .50, P = .01). There was a trend toward correlations of activation ratio with the physical index score, outer ear prominence and IQ. CGG repeat number significantly correlated onlywith the physical index (r = .44, P = .01). Thus, activation ratio may be the more pertinent molecular parameter in full mutation women in determining the degree of cognitive and physical phenotypic involvement. (C) 1996 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 04/04/20 alle ore 08:33:08