Serville F, Briault R, Taillemite J L, Despoisse S, Cotoni P, Broustet A
Ann Genet. 1982;25(3):168-71.
A teenage girl with growth and mental retardation, urinary tract and eye abnormalities was found to have an r(10)(p15q26) in blood cells. Quantitative evaluation of seven red cell enzymes including three (HK1, TGOS, PGAMA) known to be on chromosome 10, gave normal values.
一名患有生长发育迟缓和智力障碍、泌尿系统及眼部异常的少女,其血细胞中发现有r(10)(p15q26)。对七种红细胞酶进行定量评估,其中包括已知位于10号染色体上的三种酶(己糖激酶1、转酮醇酶、磷酸甘油酸变位酶A),结果显示数值正常。