A sterile male with 45,X0 and a Y;22 translocation

Abstract

Cytogenetic analysis of a 20-year-old sterile male revealed a 45,X0 karyotype with no evidence for Y-chromosomal material on any of the chromosomes analysed by Q-, G- and C-banding. DNA analysis with 17 different Y chromosome-derived probes revealed the presence of Yp DNA sequences in the patient's genome. In situ hybridization with the Yp-derived probe pJA36B disclosed a translocation of Y-chromosomal material onto the short arm of a chromosome 22.

A 45,X sterile male with Yp disguised as 21p

“…Among these, there are five instances in which the translocation was ascertained in adult individuals: three sporadic sterile males [Turleau et al, 1980;Gal et al, 1987;Andersson et al, 1988;Arnemann et al, 1991] and two families with proven fertility of the male carriers [Subrt and Blehová , 1974;Callen et al, 1987;Andersson et al, 1988]. Another azoospermic 45,X patient was found to have the SRY gene presumably because of an undetected Y;autosome translocation [Copelli et al, 2000].…”

“…Actually, in the two instances compatible with fertility, the derivative chromosome was dicentric and had acquired most or all of the Y-euchromatin, including the fertility genes located in interval 6 [Callen et al, 1987;Andersson et al, 1988]. In contrast, the absence of these genes was demonstrated by molecular means in the four previous sterile males [Gal et al, 1987;Andersson et al, 1988;Arnemann et al, 1991;Copelli et al, 2000] and can be taken for granted in the present patient who had the entire Yp and even Y-centromere sequences but no Yq11 material detectable by the painting used. Arnemann et al [1991] speculated that the primary azoospermia of these patients results from either the deletion of such fertility genes or a faulty X;Y pairing and recombination; yet the fertility of the males described by Callen et al [1987] and Andersson et al [1988] clearly favors the deletion mechanism.…”

“…Although they have male external genitalia and testes, sexual development may be abnormal, as it is illustrated by the sterility documented in four out of six 45,X instances documented in adult males [Subrt and Blehová , 1974;Turleau et al, 1980;Callen et al, 1987;Gal et al, 1987;Andersson et al, 1988;Arnemann et al, 1991;Copelli et al, 2000]. This peculiar karyotype mostly results from Y;autosome translocations allowing for the preservation of Yp or at least of SRY; so, the resulting phenotype heavily depends on the amount of Y-euchromatin present and on whether or not an euchromatic autosomal deletion has occurred [Andersson et al, 1987;Farah et al, 1994;Hsu, 1994;Gimelli et al, 1996].…”

Translocation Y;21 in an Infertile Male Patient Having 45, X Karyotype: Case Report

“…[8][9][10][11][12][13][14][15][16][17][18][19][20][21][22][23][24] The patients with Y; acrosentric chromosome translocation usually suffer from infertility due to azoospermia or oligozoospermia. [25][26][27][28][29] In our patient, there is a dicentric chromosome with an unbalanced translocation between q12 region of Y chromosome and p10 region of chromosome 21 which results in loss of heterochromatic region of Y chromosome. On physical examination, gynecomastia and short stature were observed.…”

45,X Karyotype in an Infertile Man: How Is This Possible?

“…Arnemann et al [1] described a 20-year-old infertile man without a visible Y by karyotype analysis; however, in situ hybridization with 17 different Y chromosome-derivative probes revealed the presence of Yp DNA sequences in the patient's genome on the short arm of chromosome 22. In addition, Brisset et al [2] described an azoospermic man with an unbalanced mosaic 45,X/46,X,+ der t(Y;22)(q11.2;q11.1) karyotype.…”