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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Kalousek, D. K. Barrett, I. J. McGillivray, B. C. |
| Description | Country affiliation: Canada Author Affiliation: Kalousek DK ( Department of Pathology and Medical Genetics, University of British Columbia, Vancouver, Canada.) |
| Abstract | Cytogenetic analysis of 14 placentas from live newborn infants or from terminated pregnancies with trisomies 13 and 18 revealed that all were mosaic. The mosaicism was confined to the cytotrophoblast and not detected in villous stroma, chorionic plate, or amnion. The percentage of cells with a normal karyotype varied from 12% to 100%, the average being 70%. No such confined mosaicism could be detected in 12 placentas of trisomy 21 fetuses. These findings suggest that a postzygotic loss of a trisomic chromosome in a progenitor cell of trophectoderm facilitates the intrauterine survival of trisomy-13 and -18 conceptuses. They also imply that it is placental function which determines the intrauterine survival and that the mother plays no active role in rejection of trisomic conceptions. The combination of both a pre- and post-zygotic cell division defect in viable trisomy-13 and -18 conceptions points to the possibility of a genetic predisposition to such events. The detection of only a diploid cell line in the cytotrophoblast of some pregnancies with trisomies 13 and 18 also suggests that direct preparation is unreliable for prenatal diagnosis of these trisomies on chorionic villi sampling and that long-term villous culture should be used. |
| ISSN | 00029297 |
| e-ISSN | 15376605 |
| Journal | The American Journal of Human Genetics |
| Issue Number | 3 |
| Volume Number | 44 |
| Language | English |
| Publisher | Cell Press (on behalf of American Society of Human Genetics) |
| Publisher Date | 1989-03-01 |
| Publisher Place | United States |
| Access Restriction | Open |
| Subject Keyword | Chromosomes, Human, Pair 13 Chromosomes, Human, Pair 18 Fetal Viability Mosaicism Placenta Ultrastructure Trisomy Abortion, Spontaneous Genetics Fetal Death Infant, Newborn Karyotyping Pregnancy Research Support, Non-u.s. Gov't Discipline Human Genetics |
| Content Type | Text |
| Resource Type | Article |
| Subject | Genetics Genetics (clinical) |
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