Ikeuchi T, Yamamoto K, Qiao F, Hayakawa K, Migita T, Nishikawa Y
Department of Genetics, Tokyo Medical and Dental University, Japan.
Ann Genet. 1990;33(1):32-5.
A female infant with a high-pitched cry and hypertelorism but an otherwise normal facies was found to have the karyotype 46,XX,r(21)(p11.2q22.3). The r(21) was transmitted from the phenotypically normal mother. In both cases, the structure and behavior of the r(21) were rather stable in peripheral lymphocyte cultures. This stable nature of the r(21) was also confirmed in a lymphoblastoid cell line derived from the proband, where the normal-sized r(21) was persistent in most cells in prolonged culture for at least 5 months.
一名女婴哭声高亢且眼距过宽，但面容其他方面正常，其核型为46,XX,r(21)(p11.2q22.3)。r(21)是从表型正常的母亲遗传而来。在这两个病例中，r(21)在外周血淋巴细胞培养中的结构和行为相当稳定。在先证者来源的淋巴母细胞系中也证实了r(21)的这种稳定特性，在长时间培养至少5个月的大多数细胞中，正常大小的r(21)持续存在。
