A case of discordant related abnormal karyotypes from chorionic villi and amniocytes

Porter, Sarah, Wilson, Elizabeth, Tyler, Xenia, Warren, Richard, Ffrench-Constant, Charles ORCID: https://orcid.org/0000-0002-5621-3377 and Pearson, John (1999) A case of discordant related abnormal karyotypes from chorionic villi and amniocytes. Prenatal Diagnosis, 19 (9). pp. 887-890. ISSN 0197-3851

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A case of three discordant cell lines in prenatal diagnosis is described, of which two were abnormal related structural abnormalities of chromosome 11. One of the abnormal cell lines was seen in all metaphases examined from direct preparations of chorionic villi, the cultured preparations showing an apparently normal male karyotype; the other abnormal cell line was seen in conjunction with a normal cell line in cultured amniocytes. Prenatal diagnosis offered solely on chorionic villus sampling would have yielded a mistakenly normal result on the basis of established criteria for distinguishing true mosaicism from confined placental mosaicism.

Item Type: Article
Uncontrolled Keywords: chromosome 11 mosaicism,cvs,jacobsen syndrome,unequal recombination,obstetrics and gynaecology,genetics(clinical) ,/dk/atira/pure/subjectarea/asjc/2700/2729
Faculty \ School: Faculty of Medicine and Health Sciences > Norwich Medical School
Faculty of Science > School of Biological Sciences
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Depositing User: LivePure Connector
Date Deposited: 16 Jul 2022 13:30
Last Modified: 23 Oct 2022 03:58
URI: https://ueaeprints.uea.ac.uk/id/eprint/86372
DOI: 10.1002/(SICI)1097-0223(199909)19:9<887::AID-PD659>3.0.CO;2-H

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