[一条18号环状染色体在表型正常个体中的两代传递]
[Transmission of an 18 ring chromosome in two generations in subjects of normal phenotype].
作者信息
Faugeras C, Barthe D
出版信息
J Genet Hum. 1986 Aug;34(3-4):313-20.
PMID:3760834
Abstract
We report the clinical and cytogenetic findings on three cases with ring chromosome 18. These patients are phenotypically apparently normal. The 18 ring chromosome was segregating in two generations. In the available literature, we found only one report of a r (18) transmission through generations, and none report of case without giving any phenotypic effect or mental retardation.
摘要
我们报告了3例18号环状染色体患者的临床和细胞遗传学研究结果。这些患者的表型明显正常。18号环状染色体在两代人中进行了分离。在现有文献中，我们仅发现1例关于r(18)代际传递的报告，且没有未产生任何表型效应或智力迟钝的病例报告。
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