2q部分三体与家族性易位t(2;12)(q31;q24)。
Partial trisomy 2q and familial translocation t(2;12)(q31;q24).
作者信息
Zabel B, Hansen S, Hartmann W
出版信息
Hum Genet. 1976 Apr 15;32(1):101-4. doi: 10.1007/BF00569983.
PMID:1262021
Abstract
Report is given of a boy with trisomy of the distal part of the long arm of chromosome 2 (q31 leads to ter) due to a balanced 2/12 translocation in the mother: 46,XX,t(2;12) (q31;q24). Other phenotypically normal carriers of this balanced translocation are the patients sister and grandfather. The patient shows a variety of dysplastic signs mainly of the face.
摘要
报告了一名男孩，其因母亲的平衡易位 2/12（46,XX,t(2;12)(q31;q24)）导致 2 号染色体长臂远端部分三体（q31 至末端）。该平衡易位的其他表型正常携带者为患者的姐姐和祖父。患者表现出多种主要累及面部的发育异常体征。
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