Sanchéz O, Mamunes P, Yunis J J
J Med Genet. 1977 Dec;14(6):459-62. doi: 10.1136/jmg.14.6.459.
A patient with a double partial trisomy 20 and 21 with mild mental retardation and multiple congenital anomalies is presented. Despite trisomy for a substantial portion of chromosome 21, the patient showed only minor stigmata compatible with Down syndrome.
本文报告了一名患有20号和21号染色体双部分三体综合征的患者,该患者有轻度智力障碍和多种先天性异常。尽管21号染色体的大部分区域存在三体现象,但该患者仅表现出与唐氏综合征相符的轻微体征。