FISH and array CGH characterization of de novo derivative Y chromosome (Yq duplication and partial Yp deletion) in an azoospermic male

Abstract

This study presents a 28-year-old infertile male who was referred to the cytogenetic laboratory for chromosomal analysis after 4 years of regular unprotected intercourse in whom non-obstructive azoospermia was revealed. Standard cytogenetic G-banding was performed on metaphase spreads and a de-novo karyotype 46,X,der(Y)(q11.22;p11.3) was identified. This analysis was followed by flourescence in-situ hybridization(FISH) and array comparative genomic hybridization (aCGH). Finally, the patient’s karyotype was identified as 46,X,der(Y)(qter→q11.221∷p11.31→qter).ish der(Y)(qter+,pter−,SHOX+,SRY+,Ycen+,DYZ3+;DYZ1+,qter+).arrYq11.221q12 (14,448,863–59,288,511) x2, Yp11.32p11.31(104,062–266,388) x0. It is proposed that de-novo derivative monocentric Y chromosome with duplicated region Y qter→q11.221∷p11.31→qter with partial deletion of Yp PAR1 region most probably can perturb the conjugation of sex chromosomes during first meiotic division of spermatogenic arrested differentiation (development).

A mosaic infertile case of isodicentricY-chromosome with duplicated SRY, SHOX and deleted AZF locus

“…This variation depends on mosaic cell line of 45,X and also the percentage of SRY-positive cells in the gonads [7]. As a result, in the mosaic patient, dominant cell line seem to be influencing the sex phenotype irrespective of the proportion of the Y-cell line [8][9][10].…”

A de novo derivative Y chromosome (partial Yq deletion and partial duplication of Yp and Yq) in a female with disorders of sex development

“…9 It is rare that the rearrangements of Y chromosome resulting in monocentric structure with duplication of large segments of short and long arms of Y chromosome and a partial deletion of Yq. 10 Besides, these rare aberrance is present mostly in phenotype male. 11 However, the most common cytogenetic aberrations of Y chromosome are isodicentric chromosomes in male and female cases.…”

“…It is rare that the rearrangements of Y chromosome resulting in monocentric structure with duplication of large segments of short and long arms of Y chromosome and a partial deletion of Yq . Besides, these rare aberrance is present mostly in phenotype male .…”