inv dup(8)(p21.1----22.1)：进一步的病例报告及关于该染色体异常起源的新假说

Inv dup (8) (p21.1----22.1): further case report and a new hypothesis on the origin of the chromosome abnormality.

作者信息

Gorinati M, Caufin D, Minelli A, Memo L, Gaspardo G, Dodero A

机构信息

Pediatrics Department, General Hospital, Conegliano, Italy.

出版信息

Clin Genet. 1991 Jan;39(1):55-9. doi: 10.1111/j.1399-0004.1991.tb02985.x.

DOI:10.1111/j.1399-0004.1991.tb02985.x

Abstract

We report a male infant with a de novo inverted duplication of bands 8p 21.1----22.1. The clinical features up to 8 months of age and the enzyme investigations are described. A new cytogenetic hypothesis on the genesis of this rare chromosome aberration is also discussed.

摘要

我们报告了一名患有8p 21.1----22.1带区新发反向重复的男婴。描述了其8个月大时的临床特征及酶学检查情况。还讨论了关于这一罕见染色体畸变发生机制的新细胞遗传学假说。

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