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An exceptional complex chromosomal rearrangement (CCR) with eight breakpoints involving four chromosomes (1;3;9;14) in an azoospermic male with normal phenotype.
Bartels, Iris; Starke, Heike; Argyriou, Loukas; Sauter, Simone M; Zoll, Barbara; Liehr, Thomas.
Afiliación
  • Bartels I; Institute of Human Genetics, University of Goettingen, Heinrich-Dueker-Weg 12, D-37073 Goettingen, Lower Saxonia, Germany. ibartel@gwdg.de
Eur J Med Genet ; 50(2): 133-8, 2007.
Article en En | MEDLINE | ID: mdl-17174164
ABSTRACT
A 27-year-old man was referred for chromosome analysis due to infertility caused by azoospermia. Chromosome analysis by conventional karyotyping, multicolour FISH (M-FISH) and multicolour banding (MCB) analysis revealed an apparently balanced translocation between chromosomes 1, 3, 9 and 14 as well as an additional inverted insertion of 3q material with a total of eight breakpoints. Due to the diversity of theoretically unbalanced products of meiotic recombination in this exceptional complex chromosomal rearrangement a successful result of assisted reproduction seems unlikely.
Asunto(s)
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Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Cromosomas Humanos Par 1 / Cromosomas Humanos Par 3 / Cromosomas Humanos Par 9 / Cromosomas Humanos Par 14 / Reordenamiento Génico / Rotura Cromosómica / Azoospermia Límite: Adult / Humans / Male Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2007 Tipo del documento: Article País de afiliación: Alemania
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Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Cromosomas Humanos Par 1 / Cromosomas Humanos Par 3 / Cromosomas Humanos Par 9 / Cromosomas Humanos Par 14 / Reordenamiento Génico / Rotura Cromosómica / Azoospermia Límite: Adult / Humans / Male Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2007 Tipo del documento: Article País de afiliación: Alemania