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Interchromosomal effect: Report of a father and son, bearing different translocations of the same chromosome, and a review of the current literature.
Yildirim, Mahmut Selman; Arslan, Ahmet Burak; Zamani, Ayse Gül.
Afiliação
  • Yildirim MS; Department of Medical Genetics, Meram Medical Faculty, Necmettin Erbakan University, Konya, Turkey.
  • Arslan AB; Department of Medical Genetics, Meram Medical Faculty, Necmettin Erbakan University, Konya, Turkey.
  • Zamani AG; Department of Medical Genetics, Meram Medical Faculty, Necmettin Erbakan University, Konya, Turkey.
Andrologia ; 53(1): e13805, 2021 Feb.
Article em En | MEDLINE | ID: mdl-32862490
Interchromosomal effect is a controversial phenomenon postulating that during gametogenesis of translocation carriers, aside from the unbalanced segregation of chromosomes involved in the translocation, other, structurally normal chromosomes might also be affected and segregated abnormally. Here, we present a balanced reciprocal translocation carrier t(15;20)(q11;p13), and his son, bearing a different translocation of chromosome 15, t(15;Y)(q11;q12). To further elucidate the so-far-controversial interchromosomal effect phenomenon, published original articles and case reports about interchromosomal effect were reviewed. The father was a carrier of t(15;20)(q11;p13). His wife's karyotype was normal. During a pregnancy occurred without any preceding procedure, amniocentesis was recommended to the family and performed. Result of the amniocentesis revealed a different translocation of chromosome 15; t(15;Y)(q11;q12). To our knowledge, this is the first report of two generations within a family, bearing different translocations of a chromosome. On top of all previous studies investigating ICE, our case adds an important finding, showing not only the rate of aneuploidies of structurally normal chromosomes, but also the rate of this 'alternating translocations' might be increased in translocation carriers, and this could be an important clue about interchromosomal effects.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Espermatozoides / Pai Limite: Female / Humans / Male / Pregnancy Idioma: En Ano de publicação: 2021 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Espermatozoides / Pai Limite: Female / Humans / Male / Pregnancy Idioma: En Ano de publicação: 2021 Tipo de documento: Article