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Titolo:
MOVING SATELLITES AND UNSTABLE CHROMOSOME TRANSLOCATIONS - CLINICAL AND CYTOGENETIC IMPLICATIONS
Autore:
FARRELL SA; WINSOR EJT; MARKOVIC VD;
Indirizzi:
CREDIT VALLEY HOSP,DIV GENET,2200 EGLINTON AVE W MISSISSAUGA L5M 2N1 ON CANADA TORONTO HOSP,DEPT PATHOL,CYTOGENET LAB,SURREY PL CTR TORONTO ON CANADA
Titolo Testata:
American journal of medical genetics
fascicolo: 6, volume: 46, anno: 1993,
pagine: 715 - 720
SICI:
0148-7299(1993)46:6<715:MSAUCT>2.0.ZU;2-T
Fonte:
ISI
Lingua:
ENG
Soggetto:
2 ROBERTSONIAN TRANSLOCATIONS; NUCLEOLUS ORGANIZER REGIONS; MOSAIC DOWNS-SYNDROME; PRADER-WILLI SYNDROME; SHORT ARM; ACROCENTRIC CHROMOSOMES; ABNORMALITIES; SEQUENCES;
Keywords:
CHROMOSOME POLYMORPHISM; CHROMOSOME SATELLITE; CHROMOSOME SHORT ARM; MOSAICISM; UNSTABLE TRANSLOCATION;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
37
Recensione:
Indirizzi per estratti:
Citazione:
S.A. Farrell et al., "MOVING SATELLITES AND UNSTABLE CHROMOSOME TRANSLOCATIONS - CLINICAL AND CYTOGENETIC IMPLICATIONS", American journal of medical genetics, 46(6), 1993, pp. 715-720

Abstract

We describe 2 families in which acrocentric short arm material moved from one chromosome to another. In case 1, a meiotic event resulted inmovement of an unusually large paternal 21p to chromosome 13 in the fetus. In case 2, a mitotic event resulted in fetal mosaicism. The short arm material from a paternal chromosome 15 moved to chromosome 14 insome of the fetal cells. Movement of acrocentric short arm material resulted from breakage and exchange in centromeric areas of repetitive DNA. We suggest the mechanism may be similar to that of previously reported ''jumping'' translocations. Failure to recognize movement of theshort arms of acrocentric chromosomes can result in erroneous interpretation of prenatal cytogenetic results and of other cytogenetic assays dependent on acrocentric short arm polymorphisms. (C) 1993 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 18/09/20 alle ore 11:06:02