Hata A, Suzuki Y, Matsui I, Kuroki Y
Hum Genet. 1982;62(4):364-7. doi: 10.1007/BF00304559.
Male identical twins with r(18)/normal mosaicism are reported. Twin 1 has the characteristic manifestations of the r(18) syndrome, but twin 2 shows a normal phenotype. Cytogenetic study of cultured lymphocytes revealed that the proportions of r(18) are 19.7% and 19.2%, respectively. However in the fibroblast cultures, the ring is observed in 51% of cells in twin 1 and in 0% in twin 2. The mechanism of the occurrence of the discrepant phenotypes in the twins is discussed.
本文报道了一对患有r(18)/正常嵌合体的男性同卵双胞胎。双胞胎1具有r(18)综合征的典型表现，但双胞胎2表现出正常的表型。对培养的淋巴细胞进行细胞遗传学研究发现，r(18)的比例分别为19.7%和19.2%。然而，在成纤维细胞培养中，在双胞胎1的51%的细胞中观察到了环状染色体，而在双胞胎2中则为0%。本文讨论了这对双胞胎出现不同表型的发生机制。
