Meiotic behavior of three D;G Robertsonian translocations: segregation and interchromosomal effect.
J Hum Genet
; 55(8): 541-5, 2010 Aug.
Article
em En
| MEDLINE
| ID: mdl-20555339
ABSTRACT
Robertsonian translocations are one of the most frequent reorganizations in humans. Their segregational behavior and their implication in the occurrence of interchromosomal effects (ICEs) has been an important topic of research for the past 10 years. Most of the cases analyzed correspond to rearrangements with chromosomes from the D-group (chromosomes 13, 14 and 15), whereas some rare Robertsonian translocations are scarcely found in the literature, mainly those with both chromosomes from the G-group (chromosomes 21 and 22) and those involving chromosomes from both groups (D;G translocations). Results supporting/rejecting the existence of the ICE phenomenon have been reported, showing the need for more studies to characterize its distribution. In this study, sperm fluorescent in situ hybridization studies have been performed in three D;G Robertsonian translocation carriers two men with the translocation t(14;21) and a third individual with the rare t(13;22) reorganization. Segregation and ICE results have been considered in relation to their cytogenetic features and all previously published data. The compiled information discards a particular segregation behavior related to the chromosomes involved. In contrast with this segregational homogeneity, heterogeneous ICE results were observed, indicating a significant but random distribution of such phenomenon.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Espermatozoides
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Translocação Genética
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Cromossomos Humanos Par 13
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Cromossomos Humanos Par 14
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Cromossomos Humanos Par 21
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Cromossomos Humanos Par 22
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Segregação de Cromossomos
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Meiose
Limite:
Adult
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Humans
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Male
Idioma:
En
Revista:
J Hum Genet
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2010
Tipo de documento:
Article
País de afiliação:
Espanha