Turleau C, Roubin M, Chavin-Colin F, de Grouchy J
Ann Genet. 1980;23(3):187-9.
"Mirror image" duplication of chromosome 21 -- 46,XX,pter dic(21)ter rea(21q21q) -- was observed in a patient with the complete phenotype of trisomy 21 and a ses-sesquialtère de la SOD1.
在一名具有完全21三体综合征表型和超氧化物歧化酶1(SOD1)半倍体的患者中观察到21号染色体的“镜像”重复——46,XX,pter dic(21)ter rea(21q21q) 。