Waldenmaier C, Hirsch W, Shibata K, Kothe I
Monatsschr Kinderheilkd (1902). 1975 Feb;123(2):68-71.
In a 3 1/2 years old boy with congenital malformations, statomotoric and mental retardation and immunological defects the chromosomal aberation 46,XY, 18q- was found. The result of the G-band analysis was 46,XY, del (18) (pter yields q11::q21 leads q ter) or 46,XY, del (18) (pter leads q21). The structural genes for the systems Gm, PGM-1 and HL-A presumably are not localized on the deleted chromosomal segment.
在一名患有先天性畸形、运动和智力发育迟缓以及免疫缺陷的3岁半男孩中，发现了染色体畸变46,XY, 18q-。G带分析结果为46,XY, del(18)(pter→q11::q21→q ter)或46,XY, del(18)(pter→q21)。推测Gm、PGM-1和HL-A系统的结构基因并不定位于缺失的染色体片段上。
