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7号染色体长臂部分三体。病例报告及文献复习。

Partial trisomy for the long arm of chromosome 7. Case report and review.

作者信息

Novales M A, Fernandez-Novoa C, Hevia A, San Martin V, Galera H

出版信息

Hum Genet. 1982;62(4):378-81. doi: 10.1007/BF00304563.

Abstract

We reviewed partial trisomy of the long arm of chromosome 7 after a new case was brought to our attention. The clinical differences between the various types of trisomies 7q were evaluated by statistical analysis, and three groups were defined. These groups correspond to the segments q22 or q21 leads to q31, q31 leads to qter, and q32 leads to qter, and would seem to represent three different syndromes, of which one is more serious than the other two.

摘要

在一个新病例引起我们的注意后,我们回顾了7号染色体长臂的部分三体。通过统计分析评估了各种类型7q三体之间的临床差异,并定义了三组。这些组分别对应于q22或q21至q31、q31至qter以及q32至qter的片段,似乎代表三种不同的综合征,其中一种比另外两种更严重。

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