Home Itens selecionados Provedores de dados OAI Créditos Sobre Ajuda

			Busca avançada
	Provedor de dados Braz. J. Genet. (1) Genet. Mol. Biol. (1) Autor Multani,Asha S. (2) Pathak,Sen (2) Chakravarty,Nivedita (1) Chinoy,Niloufer J. (1) Denison,Stacy R. (1) Greenbaum,Ira F. (1) Shah,Vinod C. (1) Singh,Divya (1) Mais... Palavra-chave Aphidicolin (1) Fragile sites (1) Heritability (1) Rob(14q21q) (1) Robertsonian translocation (1) Tipo do documento Info:eu-repo/semantics/article (2) Ano 2002 (1) 1997 (1) País Brazil (2) Idioma Inglês (2)		Ordenar por:  Relevância Autor Título Ano Registros recuperados: 2 Primeira ... 1 ... Última Fragility in the 14q21q translocation region Genet. Mol. Biol. Denison,Stacy R.; Multani,Asha S.; Pathak,Sen; Greenbaum,Ira F.. Aphidicolin (APC)-induced chromosomal breakage was analyzed for women representing three generations of a single family and carrying a Robertsonian translocation rob(14q21q). Fluorescence in situ hybridization (FISH) analysis confirmed the dicentric constitution of the derived chromosome and indicated the absence of beta-satellite signal at the translocation region. Per-individual analysis of metaphases from APC-treated peripheral blood lymphocyte cultures identified significantly nonrandom chromosomal breakage at the translocation region in all three individuals examined. The APC-inducible fragility at the 14q21q translocation region suggests that this rearrangement was the result of chromosomal mutation at fragile site(s) in the progenitor chromosomes,... Tipo: Info:eu-repo/semantics/article Palavras-chave: Rob(14q21q); Robertsonian translocation; Fragile sites; Aphidicolin; Heritability. Ano: 2002 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572002000300003 Deletion/inversion in the X-chromosome and increased telomeric associations in a female with primary amenorrhea Braz. J. Genet. Multani,Asha S.; Shah,Vinod C.; Singh,Divya; Chakravarty,Nivedita; Chinoy,Niloufer J.; Pathak,Sen. We describe a new case of a partial interstitial deletion and inversion of the long arm of the X-chromosome associated with a high incidence of telomeric associations in an 18-year old female who showed underdeveloped secondary sex characteristics, including small breasts and primary amenorrhea. Her karyotype was considered to be 46,X,del(Xq13 -> q22)inv(X)(q23-q27). The buccal mucosal cells showed absence of a typical Barr body, and the 5’-bromo-2-deoxyuridine incorporation studies revealed that neither the normal X-nor the abnormal X-chromosome was late replicating. The case is being presented for its extreme rarity Tipo: Info:eu-repo/semantics/article Ano: 1997 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-84551997000300025 Registros recuperados: 2 Primeira ... 1 ... Última

Empresa Brasileira de Pesquisa Agropecuária - Embrapa Todos os direitos reservados, conforme Lei n° 9.610 Política de Privacidade Área restrita		Embrapa Parque Estação Biológica - PqEB s/n° Brasília, DF - Brasil - CEP 70770-901 Fone: (61) 3448-4433 - Fax: (61) 3448-4890 / 3448-4891 SAC: https://www.embrapa.br/fale-conosco