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Sibship (21q21q) translocation Down's syndrome with maternal transmission.

作者信息

Furbetta M, Falorni A, Antignani P, Cao A

出版信息

J Med Genet. 1973 Dec;10(4):371-5. doi: 10.1136/jmg.10.4.371.

Abstract

A family is reported with eight cases of Down's syndrome and four abortions in a sibship. The cytogenetic studies showed that the mother was a (21q21q) translocation carrier. Two living children were examined and were found to be cases of Down's syndrome with a (21q21q) translocation.

摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/50e8/1013059/a7531c6243ba/jmedgene00325-0065-a.jpg

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