Alexander D S, Soudek D, Laraya P
Am J Med Genet. 1978;1(3):265-9. doi: 10.1002/ajmg.1320010302.
An infant with ambiguous genitalia, uterus, tubes, and bilaterally undescended testes was found to have an unstable dicentric Yq chromosome, and 45,X/46,X,dic i(Yq)/47,X,i(Yq) i(Yq) mosaicism in lymphocytes and fibroblasts. A few other minor cell lines were found in peripheral blood lymphocytes. These findings indicate a high degree of mitotic instability in the centromere of the dicentric i(Yq) chromosome in this patient.
一名患有两性畸形、子宫、输卵管且双侧睾丸未降的婴儿，被发现有一条不稳定的双着丝粒Yq染色体，淋巴细胞和成纤维细胞中存在45,X/46,X,dic i(Yq)/47,X,i(Yq) i(Yq)嵌合体。外周血淋巴细胞中还发现了其他一些次要细胞系。这些发现表明该患者双着丝粒i(Yq)染色体的着丝粒存在高度的有丝分裂不稳定性。
