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Titolo:
Individuals with abnormal phenotype and normal G-banding karyotype: improvement and limitations in the diagnosis by the use of 24-colour FISH
Autore:
Bezrookove, V; Hansson, K; van der Burg, M; van der Smagt, JJ; Hilhorst-Hofstee, Y; Wiegant, J; Beverstock, GC; Raap, AK; Tanke, H; Breuning, MH; Rosenberg, C;
Indirizzi:
Leiden Univ, Ctr Med, Dept Mol Cell Biol, Lab Cytochem & Cytometry, NL-2333 AL Leiden, Netherlands Leiden Univ Leiden Netherlands NL-2333 AL NL-2333 AL Leiden, Netherlands Leiden Univ, Med Ctr, MGC Dept Human & Clin Genet, Leiden, Netherlands Leiden Univ Leiden Netherlands Human & Clin Genet, Leiden, Netherlands
Titolo Testata:
HUMAN GENETICS
fascicolo: 4, volume: 106, anno: 2000,
pagine: 392 - 398
SICI:
0340-6717(200004)106:4<392:IWAPAN>2.0.ZU;2-5
Fonte:
ISI
Lingua:
ENG
Soggetto:
FLUORESCENCE INSITU HYBRIDIZATION; COMPARATIVE GENOMIC HYBRIDIZATION; IN-SITU HYBRIDIZATION; HUMAN-CHROMOSOMES; CYTOGENETIC ANALYSIS; IDENTIFICATION; DNA; TRANSLOCATIONS; LIBRARIES; CELLS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
24
Recensione:
Indirizzi per estratti:
Indirizzo: Rosenberg, C Leiden Univ, Ctr Med, Dept Mol Cell Biol, Lab Cytochem & Cytometry, Wassenaarseweg 72, NL-2333 AL Leiden, Netherlands Leiden Univ Wassenaarseweg 72 Leiden Netherlands NL-2333 AL
Citazione:
V. Bezrookove et al., "Individuals with abnormal phenotype and normal G-banding karyotype: improvement and limitations in the diagnosis by the use of 24-colour FISH", HUM GENET, 106(4), 2000, pp. 392-398

Abstract

The simultaneous identification, by fluorescence in situ hybridisation (FISH), of each chromosome in a distinct colour became feasible a few years ago. The key question in the application of this and many other developments in molecular cytogenetics to clinical situations is whether the results addsignificant further information that is relevant to the diagnosis. So far,limited data exist regarding how much improvement the technique brings to the diagnosis of phenotypically abnormal individuals in whom no abnormalities have been detected by conventional G-banding analysis. Because of the lack of a conclusive diagnosis, genetic counselling, estimation of recurrencerisk and prenatal diagnosis of these individuals and their relatives is problematic. We report a study with 24-colour whole-chromosome painting of 10familial and Il isolated cases with abnormal phenotypes and normal G-banding karyotypes. Previously undetected unbalanced translocations were revealed in two cases. The value and current cost-effectiveness of multicolour FISH for cytogenetic diagnosis is discussed.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 28/11/20 alle ore 15:49:02