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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Bibliographic Details
Published inJournal of medical genetics Vol. 14; no. 3; pp. 221 - 223
Main Authors Mark, H F, Mendoza, T, Abuelo, D, Beauregard, L J, May, J B, LaMarche, P H
Format Journal Article
LanguageEnglish
Published England BMJ Publishing Group Ltd 01.06.1977
BMJ Publishing Group LTD
Subjects
Adult
Cells, Cultured
Chromosome Aberrations
Chromosomes, Human, 21-22 and Y
Down Syndrome - genetics
Down's syndrome
Female
Fetuses
Humans
Mosaicism
Peripheral blood
Pregnancy
Research Article
Risk
Translocation, Genetic
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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.
Bibliography:href:jmedgenet-14-221.pdf
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PMID:142158
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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