一个4岁患严重多发性异常,包括发育迟滞,右肾发育异常,左肾异位,头小畸形,内眦赘皮和关节松弛的黑人女孩,从皮肤活检建立成纤维细胞培养物。培养的细胞染色体组成为46,XX,der(14), t(14;20)(p11→p11)mat,inv(q)(pter→p13::q13→p13::q13→qter),而且对大多数第20号染色体短臂来说均是三体性。在先证者的白细胞中,见到倒位的第9号染色体,但在母亲的白细胞中没有发现 A 4-year-old black girl with severe multiple abnormalities, including developmental delay, right kidney dysplasia, left renal ectopic, small deformity, epicanthus, and joint relaxation, established fibroblast cultures from skin biopsies. The chromosomal composition of the cultured cells is 46, XX, der (14), t (14; 20) (p11 → p11) mat, inv (q) (pter → p13 :: q13 → p13 :: q13 → qter) Most of chromosome 20 short arms are trisomy. In the proband’s white blood cells, the inverted chromosome 9 was seen, but not found in the mother’s white blood cells