Abnormal childhood phenotypes associated with the same balanced chromosome rearrangements as in the parents
Abnormal childhood phenotypes associated with the same balanced chromosome rearrangements as in the parents
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异常的儿童表型与父母相同的平衡染色体重排相关
DOI：
10.1007/bf00273267
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发表时间：
1979
期刊：
影响因子：
5.3
通讯作者：
F. Giraud
中科院分区：
文献类型：
--
作者：
S. Aymé;M. Mattei;J. Mattéi;F. Giraud
摘要目前已发现3例因表型异常而导致的患者。在他们的核型中发现了平衡的染色体重排，在每个案例的父母中都有一个。在这三个家庭中，异常表型和平衡的染色体重排的关联可能是偶然发生的，也可能是由染色体物质的亚微观丢失引起的，这可能是不同的位置效应所致。这些观察促使我们问，如果在一个有异常孩子的家庭的羊水细胞中发现了这种重排，应该做出什么决定来终止妊娠。
SummaryThree patients have been detected because of abnormal phenotypes. Balanced chromosome rearrangements were found in their karyotypes, and in one of the parents in each case.In these three families the association of an abnormal phenotype and a balanced chromosome rearrangement may either be a chance happening or be induced by a submicroscopic loss of chromosome material, for which different position effects may be responsible, according to the case in question.These observations prompt us to ask what decision should be made relative to termination of pregnancy if such a rearrangement is found in amniotic cells in a family with a previous abnormal child.