1号染色体短臂家族性臂间倒位
Familial paracentric inversion of 1p.
作者信息
Romain D R, Columbano-Green L M, Whyte S, Smythe R H, Parfitt R G, Gebbie O B, Chapman C J
出版信息
Am J Med Genet. 1983 Apr;14(4):629-34. doi: 10.1002/ajmg.1320140406.
PMID:6846398
Abstract
We report a paracentric inversion of 1p in a boy with mild mental retardation. The chromosome aberration was identified by high resolution chromosome banding, and was also present in his phenotypically normal mother and other relatives. The boy's karyotype was considered to be 46,XY,inv(1) (p31,2p36.22) ISCN (1981).
摘要
我们报告了一名患有轻度智力障碍男孩的1号染色体短臂臂间倒位。通过高分辨率染色体显带鉴定出该染色体畸变，并且在其表型正常的母亲及其他亲属中也存在。该男孩的核型被认为是46,XY,inv(1)(p31.2p36.22)，按照国际人类细胞遗传学命名体制（1981）。
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