|
|||||
|
|
Trisomy 12 mosaicism in phenotypically normal fetuses following prenatal detection |
|
| Authors: | Herman E Wyandt PhD Thomas Maker Nancy L Fisher Shivanand R Patil Peter Osella Frederick W Luthardt Charles Kawada Roger Williamson Aubrey Milunsky |
| Institution: | 1. Center for Human Genetics, Boston University School of Medicine, Tufts New England Medical Center, Boston, Massachusetts, U.S.A.;2. Medical Genetic Services, Seattle, Washington, U.S.A.;3. Department of Pediatrics, Division of Medical Genetics, University of Iowa Hospitals and Clinics, Iowa City, Iowa, U.S.A.;4. Swedish Hospital Medical Center, Cytogenetics Laboratory, Seattle, Washington, U.S.A.;5. Departments of Pathology and Obstetrics and Gynecology, Tufts New England Medical Center, Boston, Massachusetts, U.S.A.;6. Center for Human Genetics, Boston University School of Medicine, Tufts New England Medical Center, Boston, Massachusetts, U.S.A.
Department of Pathology, Boston University School of Medicine, Tufts New England Medical Center, Boston, Massachusetts, U.S.A. Department of Pediatrics, Boston University School of Medicine, Tufts New England Medical Center, Boston, Massachusetts, U.S.A. |
| Abstract: | 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. |
| Keywords: | Trisomy 12 Chromosome mosaicism Prenatal diagnosis |