Buchanan P D, Wyandt H E, D'Ercole A J, Rao K W, Hartsell M L
Cytogenet Cell Genet. 1976;17(1):42-50. doi: 10.1159/000130686.
A patient with a mitotically unstable dic(Y)(p11) chromosome is reported. Physical examination revealed a small penis with severe hypospadia, undescended testes, rudimetary vagina, uterus, left fallopian tube, and no stigmata of Turner syndrome. Longitudinal chromosome studies over a four-year period, including blood, skin, foreskin, and testicular tissue, revealed 45,X/46,X,dic(Y)(p11)/46,X,del(dic Y) mosaicism. The proportions of these cells varied in the different tissues, and only 45,X and 46,X,del(dic Y) were major cell lines in testicular tissue. Additional minor cell lines were present mainly in peripheral blood: 47,X,dicY,dicY; 47,X,dicY,del(dicY); and 47,X,del(dicY),del(DICY). Premature disjunction of one of the centromeres in a high percentage of the dicentric Y chromosomes in metaphase was observed by Q- and C-banding. Lymphocytes at anaphase and telophase showed lagging Y chromosomes, fragments, and nondisjunction. These observations indicate a high degree of mitotic instability and thus raise the question of the effect of premature centromeric disjunction on mitotic instability of dicentric chromosomes.
报告了一名患有有丝分裂不稳定的双着丝粒Y染色体（dic(Y)(p11)）的患者。体格检查发现阴茎短小并伴有严重尿道下裂、隐睾、发育不全的阴道、子宫、左侧输卵管，且无特纳综合征的体征。在四年期间对包括血液、皮肤、包皮和睾丸组织在内的样本进行的纵向染色体研究显示存在45,X/46,X,dic(Y)(p11)/46,X,del(dic Y)嵌合体。这些细胞在不同组织中的比例各不相同，并且在睾丸组织中仅45,X和46,X,del(dic Y)是主要细胞系。其他次要细胞系主要存在于外周血中：47,X,dicY,dicY；47,X,dicY,del(dicY)；以及47,X,del(dicY),del(DICY)。通过Q带和C带观察到中期时双着丝粒Y染色体中有很高比例的一个着丝粒过早分离。后期和末期的淋巴细胞显示Y染色体滞后、片段化和不分离。这些观察结果表明高度的有丝分裂不稳定性，从而引发了关于着丝粒过早分离对双着丝粒染色体有丝分裂不稳定性影响的问题。
