Human Reproduction, Vol. 15, No. 12, 2559-2562,
December 2000
© 2000 European Society of Human Reproduction and Embryology
Sex chromosome mosaicism in males carrying Y chromosome long arm deletions
1 Service d'Histologie, Biologie de la Reproduction et Cytogénétique et CECOS, Hôpital Tenon, 4 Rue de la Chine, 75020 Paris, 2 Laboratoire d'Immunogénétique Humaine, Institut Pasteur, Paris, France, 3 Andrology Unit, University of Florence, Firenze, Italy, 4 Département de Génétique, Institut Pasteur, Casablanca, Maroc, 5 CECOS Midi-Pyrénées, Centre de Stérilité Masculine and Research Group on Human Reproduction, CHU La Grave, Toulouse, 6 Service de Génétique Médicale, CHU Purpan, Toulouse and 7 Service de Biologie de la Reproduction et du Développement, Centre Hospitalier Universitaire, Clermont Ferrand, France
Microdeletions of the long arm of the Y chromosome (Yq) are a common cause of male infertility. Since large structural rearrangements of the Y chromosome are commonly associated with a 45,XO/46,XY chromosomal mosaicism, we studied whether submicroscopic Yq deletions could also be associated with the development of 45,XO cell lines. We studied blood samples from 14 infertile men carrying a Yq microdeletion as revealed by polymerase chain reaction (PCR). Patients were divided into two groups: group 1 (n = 6), in which karyotype analysis demonstrated a 45,X/46,XY mosaicism, and group 2 (n = 8) with apparently a normal 46,XY karyotype. 45,XO cells were identified by fluorescence in-situ hybridization (FISH) using X and Y centromeric probes. Lymphocytes from 11 fertile men were studied as controls. In addition, sperm cells were studied in three oligozoospermic patients in group 2. Our results showed that large and submicroscopic Yq deletions were associated with significantly increased percentages of 45,XO cells in lymphocytes and of sperm cells nullisomic for gonosomes, especially for the Y chromosome. Moreover, two isodicentric Y chromosomes, classified as normal by cytogenetic methods, were detected. Therefore, Yq microdeletions may be associated with Y chromosomal instability leading to the formation of 45,XO cell lines.
Key words: ICSI/male infertility/mosaicism/Turner syndrome/Y chromosome deletions
8 To whom correspondence should be addressed at: Hôpital Tenon, 4 Rue de la Chine, 75020 Paris France. E-mail: jean-pierre.siffroi{at}tnn.ap-hop-paris.fr
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