两名患有源自家族性臂间倒位的rec(21)、dupq、inv(21)(p11;q2109)的唐氏综合征患者。
Two Down syndrome patients with rec(21),dupq,inv(21)(p11;q2109) from a familial pericentric inversion.
作者信息
Léonard C, Gautier M, Sinet P M, Selva J, Huret J L
出版信息
Ann Genet. 1986;29(3):181-3.
PMID:2947534
Abstract
Aneusomie de recombinaison arose from a familial pericentric inversion of a chromosome 21. Two female patients had a typical Down syndrome; one of them had slight psychomotor retardation. There was partial trisomy 21q2109----qter in these two patients but ZnCu SOD activity was normal.
摘要
重组非整倍体源于21号染色体的家族性臂间倒位。两名女性患者患有典型的唐氏综合征；其中一名有轻度精神运动发育迟缓。这两名患者存在21q2109----qter部分三体，但锌铜超氧化物歧化酶活性正常。
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