44 PROBANDS WITH AN ADDITIONAL MARKER CHROMOSOME
44 PROBANDS WITH AN ADDITIONAL MARKER CHROMOSOME
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DOI：
10.1007/bf00291656
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发表时间：
1985-01-01
期刊：
影响因子：
5.3
通讯作者：
EVANS, HJ
中科院分区：
文献类型：
--
作者：
BUCKTON, KE;SPOWART, G;EVANS, HJ
信息是从一个详尽的检查44先证者与额外的标记染色体（MAR）和他们的家庭。这些数据包括标记的来源，在不同人群中的频率，遗传以及对生育力，先天性异常和智力的可能影响。本文讨论了在产前诊断过程中发现的携带标记物的胎儿畸形风险评估的实际问题。
Information is presented which was obtained from an exhaustive examination of 44 probands with a supernumerary marker chromosome (mar) and their families. The data include the derivation of the mar, frequency in various populations, inheritance and possible effect on fertility, congenital abnormality and mental ability. The practical problems in assessing the risk of abnormality in a fetus discovered during prenatal diagnosis to be carrying a mar, are discussed.