Trisomy 12 mosaicism in phenotypically normal fetuses following prenatal detection
| Autor: | Nancy L. Fisher, Peter Osella, Thomas Maker, Aubrey Milunsky, Shivanand R. Patil, Roger A. Williamson, Frederick W. Luthardt, Herman E. Wyandt, Charles Y. Kawada |
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| Rok vydání: | 1990 |
| Předmět: |
Adult
Pathology medicine.medical_specialty Genetic counseling Chromosome Disorders Trisomy Autopsy Prenatal diagnosis Biology Pregnancy medicine Humans Genetics (clinical) Chromosome Aberrations Fetus Chromosomes Human Pair 12 medicine.diagnostic_test Mosaicism Obstetrics Obstetrics and Gynecology medicine.disease In utero Amniocentesis Female |
| Zdroj: | Prenatal Diagnosis. 10:569-574 |
| ISSN: | 1097-0223 0197-3851 |
| Popis: | We report three cases of amniocentesis in which mosaicism for trisomy 12 was detected in two or more independent cultures. The parents elected to terminate the pregnancy in all three cases. Follow-up studies in two of the cases confirmed the mosaicism in fetal tissues (in subcutaneous tissue in one case; in fetal lung in the other), but not in blood. No fetal anomalies were evident by ultrasound or at autopsy. These results along with other reported cases demonstrate the difficulty in counselling for mosaic trisomy 12. |
| Databáze: | OpenAIRE |
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