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Titolo:
22q11.2 microdeletions in adults with familial tetralogy of Fallot
Autore:
Hokanson, JS; Pierpont, ME; Hirsch, B; Moller, JH;
Indirizzi:
Univ Minnesota, Dept Lab Med & Pathol, Minneapolis, MN 55455 USA Univ Minnesota Minneapolis MN USA 55455 Pathol, Minneapolis, MN 55455 USA Univ Minnesota, Dept Pediat, Minneapolis, MN 55455 USA Univ Minnesota Minneapolis MN USA 55455 Pediat, Minneapolis, MN 55455 USA Univ Illinois, Coll Med, Peoria, IL 61656 USA Univ Illinois Peoria IL USA61656 llinois, Coll Med, Peoria, IL 61656 USA Childrens Hosp Illinois, Peoria, IL USA Childrens Hosp Illinois Peoria ILUSA rens Hosp Illinois, Peoria, IL USA
Titolo Testata:
GENETICS IN MEDICINE
fascicolo: 1, volume: 3, anno: 2001,
pagine: 61 - 64
SICI:
1098-3600(200101/02)3:1<61:2MIAWF>2.0.ZU;2-Q
Fonte:
ISI
Lingua:
ENG
Soggetto:
CONGENITAL HEART-DISEASE; CHROMOSOMAL REGION 22Q11; DIGEORGE-SYNDROME; MONOZYGOTIC TWINS; VELOCARDIOFACIAL SYNDROME; CONOTRUNCAL DEFECTS; CARDIAC ANOMALIES; NEURAL CREST; DELETION; PHENOTYPE;
Keywords:
tetralogy of Fallot; 22q11.2 microdeletion; congenital heart disease; genetics;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
35
Recensione:
Indirizzi per estratti:
Indirizzo: Hokanson, JS Univ Wisconsin, Ctr Clin Canc H4 442, 600 Highland Ave, Madison, WI 53792 USA Univ Wisconsin 600 Highland Ave Madison WI USA 53792 3792 USA
Citazione:
J.S. Hokanson et al., "22q11.2 microdeletions in adults with familial tetralogy of Fallot", GENET MED, 3(1), 2001, pp. 61-64

Abstract

Purpose: To determine the incidence of 22q11.2 microdeletions in the adultsurvivors of correction of tetralogy of Fallot who have familiar congenital heart disease. Methods: Patients who had survived a correction of tetralogy of Fallot between 1954 and 1974 and had affected family members were identified during a study of these long-term survivors. Fluorescence in situ hybridization analysis was performed using both the N 25 (Oncor) and TUPLE1(VYSIS) probes, mapped to 22q11.2. Results: One of 18 (5.6%) patients had a microdeletion within 22q11.2, including both N25 and TUPLE1. Conclusion: 22q11.2 microdeletions involving TUPLE1 and/or N25 are present in a minority of adults with familial tetralogy of Fallot.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 28/03/20 alle ore 13:55:39