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De novo del(7)(pter→p21.2::p15.2→qter) and craniosynostosis. Implications for critical segment assignment in the 7p2 monosomy syndrome
(1986)
A 4-year-old boy was found to have a typical 7p2 monosomy syndrome, including craniosynostosis, due to a de novo del(7)(pter→p21.2::p15.2→qter). It is concluded that the band 7p21 (probably only the subband p21.1) is the ...
De novo del(7)(pter?p21.2::p15.2?qter) and craniosynostosis. Implications for critical segment assignment in the 7p2 monosomy syndrome
(1986)
A 4-year-old boy was found to have a typical 7p2 monosomy syndrome, including craniosynostosis, due to a de novo del(7)(pter?p21.2::p15.2?qter). It is concluded that the band 7p21 (probably only the subband p21.1) is the ...
De Novo Double Reciprocal Translocations In Addition To Partial Monosomy At Another Chromosome: A Very Rare Case
(ELSEVIER SCIENCE BVAMSTERDAM, 2015)
Determinación de anomalías cromosómicas y secuencias de ADN amplificadas en cáncer de mama
(Universidad del RosarioEscuela de Medicina y Ciencias de la Salud, 2010)
Breast cancer is the third cause of death in the general population and the second one in Colombian women. In 2002, 40.5% of the cases were of women younger than 50. Breast cancer originates as a result of multiple and ...
Estudo Citogenético-molecular e Clínico de uma família com onze portadores de monossomia 5p ou trissomia 5p em decorrência de uma translocação (5;15)(p13;p12)
(Universidade Federal de São Paulo (UNIFESP), 2008-06-25)
Introduction: Partial monosomy 5p (Cri du Chat syndrome) and partial trisomy 5p are clinically well characterized syndromes, with several cases described in the literature. This, however, is the first molecular-cytogenetic ...