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Titolo:
BIPARENTAL INHERITANCE OF CHROMOSOME-21 POLYMORPHIC MARKERS INDICATESTHAT SOME ROBERTSONIAN TRANSLOCATIONS T(2121) OCCUR POSTZYGOTICALLY
Autore:
BLOUIN JL; BINKERT F; ANTONARAKIS SE;
Indirizzi:
UNIV GENEVA,SCH MED,CMU,DIV MED GENET,1 RUE MICHEL SEVRET CH-1211 GENEVA SWITZERLAND UNIV GENEVA,SCH MED,CMU,DIV MED GENET CH-1211 GENEVA SWITZERLAND JOHNS HOPKINS UNIV,SCH MED,CTR MED GENET BALTIMORE MD 21205 UNIV ZURICH,SCH MED,INST MED GENET ZURICH SWITZERLAND
Titolo Testata:
American journal of medical genetics
fascicolo: 3, volume: 49, anno: 1994,
pagine: 363 - 368
SICI:
0148-7299(1994)49:3<363:BIOCPM>2.0.ZU;2-W
Fonte:
ISI
Lingua:
ENG
Soggetto:
HUMAN ACROCENTRIC CHROMOSOMES; DNA POLYMORPHISMS; FIBRILLAR CENTER; RIBOSOMAL GENES; DOWN-SYNDROME; ASSOCIATION; SEQUENCES; ISOCHROMOSOMES; IDENTIFICATION; ABNORMALITIES;
Keywords:
DNA POLYMORPHISMS; CHROMOSOME 21; ROBERTSONIAN TRANSLOCATION;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
32
Recensione:
Indirizzi per estratti:
Citazione:
J.L. Blouin et al., "BIPARENTAL INHERITANCE OF CHROMOSOME-21 POLYMORPHIC MARKERS INDICATESTHAT SOME ROBERTSONIAN TRANSLOCATIONS T(2121) OCCUR POSTZYGOTICALLY", American journal of medical genetics, 49(3), 1994, pp. 363-368

Abstract

Robertsonian translocations between acrocentric chromosomes are the most common structural chromosomal rearrangements in humans and many other organisms, and several mechanisms for their formation have been proposed. We have analyzed highly informative DNA polymorphisms in a family with a non-mosaic de novo Robertsonian translocation 21q;21q, to determine the parental origin of the two 21q arms of the rearranged chromosome. The genotypes indicated a biparental origin, i.e. one 21q waspaternal and the other maternal. These results imply that in some cases the formation of the rob(21q;21q) occurs in the zygote or in the first few postzygotic mitotic divisions. (C) 1994 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 10:40:44