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因母亲发生t(16;21)(q11;p11)易位导致活产子代出现16号染色体短臂三体并文献复习

Trisomy 16p in a liveborn offspring due to maternal translocation t(16;21)(q11;p11) and review of the literature.

作者信息

Léonard C, Huret J L, Imbert M C, Lebouc Y, Selva J, Boulley A M

机构信息

Laboratoire de Cytogénétique, CHU Bicêtre, Paris, France.

出版信息

Am J Med Genet. 1992 Jun 1;43(3):621-5. doi: 10.1002/ajmg.1320430324.

DOI:10.1002/ajmg.1320430324
PMID:1605261
Abstract

We report on a case of dup(16p) and review previous cases. The triplicated chromosome region leading to this specific syndrome lies in 16p13.1 p13.3. Most of the cases are inherited and the mode of segregation was found to be 3:1 in half of the cases, but these observations might be due to biases. The other chromosomes involved in the translocations as well as the breakpoints in these chromosomes do not appear to be random.

摘要

我们报告了一例dup(16p)病例并回顾了既往病例。导致这种特定综合征的三倍体染色体区域位于16p13.1 - p13.3。大多数病例是遗传性的，在一半的病例中发现分离模式为3:1，但这些观察结果可能存在偏差。易位中涉及的其他染色体以及这些染色体中的断点似乎并非随机出现。

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