Reproduction in a woman with low percentage t(21q21q) mosaicism
The birth of a child is described with Down syndrome followed by the conception of a fetus bearing the t(21q21q) chromosome in 100% of their cells in a women mosiac for the translocation in less than 10% of 2 of her examined tissues and in none of the cells in her peripheral blood. Various hypothese...
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Published in | Journal of medical genetics Vol. 14; no. 3; pp. 221 - 223 |
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Main Authors | , , , , , |
Format | Journal Article |
Language | English |
Published |
England
BMJ Publishing Group Ltd
01.06.1977
BMJ Publishing Group LTD |
Subjects | |
Online Access | Get full text |
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Summary: | The birth of a child is described with Down syndrome followed by the conception of a fetus bearing the t(21q21q) chromosome in 100% of their cells in a women mosiac for the translocation in less than 10% of 2 of her examined tissues and in none of the cells in her peripheral blood. Various hypotheses for explaining the above findings are discussed. The importance of examining as many parental tissues as possible for the detection of low percentage mosiacism is stressed. |
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Bibliography: | href:jmedgenet-14-221.pdf local:jmedgenet;14/3/221 PMID:142158 istex:C2C0BAB34F06A63B5E99E614ABAFDCF3D77D29CA ark:/67375/NVC-G6B8QFF1-F ObjectType-Case Study-2 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3 |
ISSN: | 0022-2593 1468-6244 1468-6244 |
DOI: | 10.1136/jmg.14.3.221 |