Matsuda T, Sanada S, Omori K, Horii Y, Takahashi Y, Edamura S, Koike S, Sasaki M
Hinyokika Kiyo. 1986 Jun;32(6):809-18.
Four balanced autosomal reciprocal translocations were found through mitotic chromosome analysis among 72 subfertile males, 27 with azoospermia and 45 with sperm counts below 40 X 10(6)/ml. They were 46, XY, t(3; 20; 21) with azoospermia, 46, XY, t(14; 21) with sperm counts below 1 X 10(6)/ml, 46, XY, t(1; 19) lqh+ with azoospermia and 46, XY, t(3; 16) with sperm counts 27 X 10(6)/ml. Histological, cytogenetic and hormonal analysis were performed. Testicular biopsies from the first 3 carriers revealed complete spermatogenic arrest at the spermatocyte stage and meiotic studies of the same biopsies showed severe reduction in numbers of cells in 2nd meiotic division. In spite of severely defective spermatogenesis, serum gonadotropins of the carriers were within normal range, except for LH of the 4th case. Other chromosomal aberrations observed were 5 Klinefelter's syndrome, 2 autosomal minor variants (46, XY, 15p+ and 46, XY, 14s+) and 1 small Y.
通过有丝分裂染色体分析,在72名不育男性中发现了4例平衡的常染色体相互易位,其中27例无精子症,45例精子计数低于40×10⁶/ml。它们分别是:46, XY, t(3; 20; 21)伴无精子症,46, XY, t(14; 21)精子计数低于1×10⁶/ml,46, XY, t(1; 19) lqh⁺伴无精子症,以及46, XY, t(3; 16)精子计数为27×10⁶/ml。进行了组织学、细胞遗传学和激素分析。对前3例携带者进行睾丸活检,结果显示生精细胞阶段完全生精停滞,对相同活检组织进行减数分裂研究发现第二次减数分裂细胞数量严重减少。尽管精子发生存在严重缺陷,但除第4例的促黄体生成素外,携带者的血清促性腺激素水平均在正常范围内。观察到的其他染色体异常包括5例克氏综合征、2例常染色体微小变异(46, XY, 15p⁺和46, XY, 14s⁺)和1例小Y染色体。