Berg J M, Gardner H A, Gardner R J, Goh E G, Markovic V D, Simpson N E, Worton R G
J Med Genet. 1980 Apr;17(2):144-8. doi: 10.1136/jmg.17.2.144.
A child with characteristic clinical features of Down's syndrome and raised red cell SOD-1 activity was found to have, in addition to a single chromosome 21, a reverse dicentric tandem translocation of two No 21s with dual NORs and C band regions. The breakpoints on the chromosomes involved in the translocation were at the most distal end of the long arms (21q223). The phenotypically normal mother carried a rare variant of a chromosome 9.
一名具有唐氏综合征典型临床特征且红细胞超氧化物歧化酶-1(SOD-1)活性升高的儿童,除了有一条21号染色体外,还存在两条21号染色体的反向双着丝粒串联易位,伴有双核仁组织区(NORs)和C带区域。参与易位的染色体上的断点位于长臂的最远端(21q223)。表型正常的母亲携带一种罕见的9号染色体变异体。