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Titolo:
Detection of submicroscopic aberrations in patients with unexplained mental retardation by fluorescence in situ hybridization using multiple subtelomeric probes
Autore:
Fan, YS; Zhang, Y; Speevak, M; Farrell, S; Jung, JH; Siu, VM;
Indirizzi:
London Hlth Sci Ctr, Cytogenet Div, London, ON N6A 4G5, Canada London HlthSci Ctr London ON Canada N6A 4G5 , London, ON N6A 4G5, Canada Univ Western Ontario, London, ON, Canada Univ Western Ontario London ON Canada estern Ontario, London, ON, Canada Credit Valley Hosp, Mississauga, ON, Canada Credit Valley Hosp Mississauga ON Canada y Hosp, Mississauga, ON, Canada
Titolo Testata:
GENETICS IN MEDICINE
fascicolo: 6, volume: 3, anno: 2001,
pagine: 416 - 421
SICI:
1098-3600(200111/12)3:6<416:DOSAIP>2.0.ZU;2-6
Fonte:
ISI
Lingua:
ENG
Soggetto:
REGION-SPECIFIC PROBES; CRYPTIC TRANSLOCATION; CLINICAL PHENOTYPE; TELOMERE; FISH; REARRANGEMENTS; DELETIONS; CHILDREN; STRATEGY; SET;
Keywords:
fluorescence in situ hybridization; multiple subtelomeric probes; subtelomeric aberrations; mental retardation; developmental delay; spectral karyotyping; cryptic rearrangement;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
30
Recensione:
Indirizzi per estratti:
Indirizzo: Fan, YS London Hlth Sci Ctr, Cytogenet Div, 375 South St,HSB Room 33, London, ON N6A 4G5, Canada London Hlth Sci Ctr 375 South St,HSB Room 33 London ON Canada N6A 4G5
Citazione:
Y.S. Fan et al., "Detection of submicroscopic aberrations in patients with unexplained mental retardation by fluorescence in situ hybridization using multiple subtelomeric probes", GENET MED, 3(6), 2001, pp. 416-421

Abstract

Purpose: To further assess the frequency of subtelomeric aberrations in a selected population and to examine the feasibility of a clinical testing. Methods: Patients were selected based on the following criteria: (1) mental retardation (IQ<70) or developmental delay with dysmorphic features; (2) a normal karyotype at the level of resolution of 450 to 500 bands; and (3) exclusion of other possible etiologies by a full genetic assessment and relevant tests. Fluorescence in situ hybridization (FISH) was performed using multiple subtelomeric probes. Abnormal findings were confirmed by 24-color spectral karyotyping or FISH with a specific subtelomeric probe, and family studies were carried out to determine inheritance. Results: Clinically significant aberrations were detected in 6 of 150 proband patients (4%), while deletion of the 2q subtelomeric region appeared to be a common variant (6%). Conclusions: FISH with multiple subtelomeric probes is a valuable clinicaltest for establishing a definitive diagnosis for patients with unexplainedmental retardation/developmental disorders.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 30/11/20 alle ore 16:41:17