Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
Family data in Rett syndrome: Association with other genetic disorders
Autore:
Leonard, H; Fyfe, S; Dye, D; Hockey, A; Christodoulou, J;
Indirizzi:
TVW Telethon Inst Child Hlth Res, W Perth, WA 6872, Australia TVW TelethonInst Child Hlth Res W Perth WA Australia 6872 872, Australia Curtin Univ Technol, Perth, WA 6001, Australia Curtin Univ Technol Perth WA Australia 6001 ol, Perth, WA 6001, Australia Disabil Serv Commiss, W Perth, WA, Australia Disabil Serv Commiss W PerthWA Australia ommiss, W Perth, WA, Australia Univ Sydney, Dept Paediat & Child Hlth, Sydney, NSW 2006, Australia Univ Sydney Sydney NSW Australia 2006 d Hlth, Sydney, NSW 2006, Australia
Titolo Testata:
JOURNAL OF PAEDIATRICS AND CHILD HEALTH
fascicolo: 4, volume: 36, anno: 2000,
pagine: 336 - 339
SICI:
1034-4810(200008)36:4<336:FDIRSA>2.0.ZU;2-B
Fonte:
ISI
Lingua:
ENG
Soggetto:
AUSTRALIA; REGION; GIRLS; XQ28;
Keywords:
genetics; pedigree; family; Rett syndrome;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
22
Recensione:
Indirizzi per estratti:
Indirizzo: Leonard, H TVW Telethon Inst Child Hlth Res, POB 855, W Perth, WA 6872, Australia TVW Telethon Inst Child Hlth Res POB 855 W Perth WA Australia 6872
Citazione:
H. Leonard et al., "Family data in Rett syndrome: Association with other genetic disorders", J PAEDIAT C, 36(4), 2000, pp. 336-339

Abstract

Background: Rett syndrome is a neurological disorder, almost exclusively affecting girls. Methodology: Between 1993 and 1995 pedigree data were obtained from families of girls registered with the Australian Rett syndrome database. Results: Although 21 individual disorders were reported to be present in family members of affected girls, there was no apparent clustering of the same disorder in different families. However it was certain that a geneticisthad been involved in only 10.9% of cases. Conclusions: Mutations in the MECP2 gene have now been reported in a proportion of sporadic cases. Thus, it will be important to examine this phenotype-genotype correlation in the Australian cohort. Where a mutation is found, prenatal diagnosis in a subsequent pregnancy will be a possibility. Usingthe Australian population database and in conjunction with the clinical genetic services in each stale it is planned to contact families with an affected girl to offer testing and counselling.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 27/01/20 alle ore 02:28:55