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X monosomy and balanced Robertsonian translocation in a girl with Turner Syndrome Genet. Mol. Biol.
Silva,Aline Lourenço da; Lima,Renata LL Ferreira de; Ribeiro,Lucilene Arilho; Moretti-Ferreira,Danilo.
We describe a case of X monosomy associated with a maternally inherited t(13;14) Robertsonian translocation in a girl with Turner syndrome. The girl's X chromosome was demonstrated to be maternally inherited, ruling out the hypothesis that the translocation exerted an interchromosomal effect on the origin of the monosomy. Chromosomes 13 and 14 showed biparental inheritance.
Tipo: Info:eu-repo/semantics/article Palavras-chave: Robertsonian translocation; X monosomy; Interchromosomal effect.
Ano: 2006 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572006000100010
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The karyotype of Nothoscordum arenarium Herter (Gilliesioideae, Alliaceae): a populational and cytomolecular analysis Genet. Mol. Biol.
Souza,Luiz G.R.; Crosa,Orfeo; Winge,Helga; Guerra,Marcelo.
The genus Nothoscordum Kunth comprises approximately 20 species native to South America. Karyologically, the genus is remarkable for its large chromosomes and Robertsonian translocations. Variation in chromosome number has been recorded in a few polyploid species and it is unknown among diploids. This study presents the chromosome number and morphology of 53 individuals of seven populations of N. arenarium Herter (2n = 10). In addition, karyotype analyses after C-banding, staining with CMA and DAPI, and in situ hybridization with 5S and 45S rDNA probes were performed in six individuals from one population. All individuals exhibited 2n = 10 (6M + 4A), except for one tetraploid (2n = 20, 12M + 8A) and one triploid (2n = 15, 9M + 6A) plant. C-banding revealed...
Tipo: Info:eu-repo/semantics/article Palavras-chave: CMA/DAPI staining; 5S and 45S rDNA; Heterochromatin; Nothoscordum; Robertsonian translocation.
Ano: 2009 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572009000100016
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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
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