12q部分三体综合征：一例报告及文献复习
Partial trisomy 12q: report of a case and review.
作者信息
Roberts S H, Mattina T, Laurence K M, Sorge G, Pavone L
出版信息
J Med Genet. 1981 Dec;18(6):470-3. doi: 10.1136/jmg.18.6.470.
Abstract
A malformed male infant with pure partial trisomy 12q (q24.1 leads to qter), resulting from an unbalanced segregation of a paternal balanced translocation t(2;12)(q37;q24.1), is described. The cytogenetic and clinical abnormalities of the proband are compared with those of four previously reported cases of partial trisomy 12q, two of which also appear to have pure trisomy of segment 12q24.1 leads to 12 qter.
摘要
本文描述了一名男性畸形婴儿，其患有纯合性12q部分三体（q24.1至qter），这是由父亲的平衡易位t(2;12)(q37;q24.1)的不平衡分离所致。将先证者的细胞遗传学和临床异常与之前报道的4例12q部分三体病例进行了比较，其中2例似乎也患有12q24.1至12qter节段的纯合三体。
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