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19-base pair deletion polymorphism of the dihydrofolate reductase (DHFR) gene: maternal risk of Down syndrome and folate metabolismPolimorfismo de deleção de 19 pares de bases do gene dihidrofolato redutase (DHFR): risco materno para síndrome de Down e metabolismo do folato
(Associação Paulista de Medicina - APMBrasil, 2010)
Clinical and molecular analysis of a patient with X-chromosome pentasomy
Introduction: Pentasomy X is a rare chromosomal disorder which affects women. It was first described in 1963 by Kesaree and Wooley. Up to date, less than 30 cases have been reported. We report a case of 28 month old female ...
Investigação de mosaicismo críptico e potenciais fatores de riscos para a não disjunção cromossômica na Síndrome de Turner
(Universidade Federal de PernambucoUFPEBrasilPrograma de Pos Graduacao em Genetica, 2016)
ANÁLISIS CLÍNICO Y MOLECULAR DE UNA PACIENTECON PENTASOMIA DEL CROMOSOMA X.
Introduction: Pentasomy X is a rare chromosomal disorder which affects women. It was first described in 1963 by Kesaree and Wooley. Up to date, less than 30 cases have been reported. We report a case of 28 month old female ...
Genomic study of the critical region of chromosome 21 associated to Down syndrome
(Universidad del Valle, 2011)
Análisis previos han identificado una región del cromosoma 21, conocida como región crítica del síndrome de Down (DSCR) en donde se localizan algunos genes cuya expresión modularía las principales características clínicas ...
Análisis clínico y molecular de una paciente con pentasomia del cromosoma X.
(Universidad Nacional de ColombiaBogotá, 2010)
Introducción: la Pentasomia del X (49,XXXXX) es una alteración cromosómica poco frecuente, que afecta a mujeres y fue descrita en 1963 por Kesaree y Wooley. Hasta la fecha se han reportado menos de 30 casos en la literatura. ...
Aneuploidy in spermatids of Robertsonian (Rb) chromosome heterozygous mice
(Kluwer Academic Publishers, 2014)
© 2014, The Author(s). Rb translocations are chromosomal rearrangements frequently found in natural populations of the house mouse Mus musculus domesticus. The standard diploid karyotype of the house mouse consisting of ...
Homogenization and Truncation Processes in Inflorescences of Cyperaceae
(Springer, 2016-06)
This work presents an analysis of the homogenization and truncation processes in Cyperaceae inflorescences. The truncation process is rare in Cyperaceae. There may be homogenized inflorescences but in general these ...
Identification and description of distinct B chromosomes in Cyphocharax modestus (Characiformes, Curimatidae)
(Sociedade Brasileira de Genética, 2008-01-01)
Cytogenetic analyses were performed in Cyphocharax modestus, collected at Paranapanema River and Tietê River (São Paulo State, Brazil). A karyotype with 2n = 54 chromosomes was observed in the animals from both Brazilian ...