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.

Sex chromosome mosaicism in males carrying Y chromosome long arm deletions / Siffroi JP; Le Bourhis C; Krausz C; Barbaux S; Quintana-Murci L; Kanafani S; Rouba H; Bujan L; Bourrouillou G; Seifer I; Boucher D; Fellous M; McElreavey K; Dadoune JP.. - In: HUMAN REPRODUCTION. - ISSN 0268-1161. - STAMPA. - 15:(2000), pp. 2559-2562.

Sex chromosome mosaicism in males carrying Y chromosome long arm deletions.

KRAUSZ, CSILLA GABRIELLA;
2000

Abstract

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.
2000
15
2559
2562
Siffroi JP; Le Bourhis C; Krausz C; Barbaux S; Quintana-Murci L; Kanafani S; Rouba H; Bujan L; Bourrouillou G; Seifer I; Boucher D; Fellous M; McElreavey K; Dadoune JP.
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Utilizza questo identificatore per citare o creare un link a questa risorsa: https://hdl.handle.net/2158/778642
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