Y-autosome translocation and infertility: usefulness of molecular, cytogenetic and meiotic studies |
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Authors: | Bruno Delobel Ratib Djlelati Odette Gabriel-Robez Marie-Françoise Croquette Roselyne Rousseaux-Prévost Jean Rousseaux Jean-Marc Rigot Y Rumpler |
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Institution: | Laboratoire de Cytogénétique, H?pital St-Antoine, BP 255, F-59?019 Lille, France, FR Institut d’Embryologie, Faculté de Médecine, 11 rue Humann, F-67?085 Strasbourg cedex, France Tel.: +33 03 88 35 87 77; Fax: + 33 03 88 24 20 05, FR Institut de Recherche sur le Cancer, EA1719, Place de Verdun, F-59?045 Lille, France, FR Service d’Urologie, H?pital Huriez, Place de Verdun, F-59?037 Lille, France, FR
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Abstract: | An apparently balanced reciprocal translocation 46,X,t(Y;6) (q11.23 ∼ q12;p11.1) was observed in an infertile man with severe
oligozooteratozoospermia. Different mitotic chromosome banding patterns were performed and fluorescence in situ hybridization
indicated a breakpoint in the fluorescent Yq heterochromatin. Molecular genetic deletion experiments for the azoospermia factor
region in distal Yq11 showed the retention of the DAZ gene and meiotic pairing configurations suggested that the man’s infertility
could be due to the pairing behaviour of the Y;6 translocation chromosome with the X chromosome visualised by synaptonemal
complex analysis at the electron microscopy level. The morphological appearance of the normal chromosome 6 and the Y;6 translocated
chromosome included in the compartment of the sex vesicle may allow an explanation of the degeneration of most spermatocytes
after the pachytene stage.
Received: 1 August 1997 / Accepted: 25 September 1997 |
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