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Titolo:
ROBERTSONIAN TRANSLOCATIONS - CLUES TO IMPRINTING
Autore:
DONNAI D;
Indirizzi:
ST MARYS HOSP,REG GENET SERV,HATHERSAGE RD MANCHESTER M13 0JH LANCS ENGLAND
Titolo Testata:
American journal of medical genetics
fascicolo: 6, volume: 46, anno: 1993,
pagine: 681 - 682
SICI:
0148-7299(1993)46:6<681:RT-CTI>2.0.ZU;2-C
Fonte:
ISI
Lingua:
ENG
Soggetto:
HUMAN ACROCENTRIC CHROMOSOMES; HETERODISOMY;
Keywords:
UNIPARENTAL DISOMY; MENTAL RETARDATION; DYSMORPHOGENESIS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
15
Recensione:
Indirizzi per estratti:
Citazione:
D. Donnai, "ROBERTSONIAN TRANSLOCATIONS - CLUES TO IMPRINTING", American journal of medical genetics, 46(6), 1993, pp. 681-682

Abstract

Robertsonian translocations, occurring with a frequency of about 1 in10,000 livebirths, may be an important cause of uniparental disomy asdemonstrated for 13/15, 13/14, 14/14, and 22/22 translocations. Dysmorphogenesis and/or mental retardation provide clinical clues for uniparental disomy in apparently balanced offspring of translocation carriers. Research strategies for assessing frequency and implications of uniparental disomy in translocation carriers include a genetic register approach, study of abortuses from balanced translocation carriers, andparent-of-origin studies on de novo homologous Robertsonian translocations. (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 17:20:11