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Trisomy 20 mosaicism confirmed in a phenotypically normal liveborn |
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| Authors: | Jonathan P. Park John B. Moeschler Eileen Rawnsley Susan Z. Berg Doris H. Wurster-Hill |
| Affiliation: | 1. Dartmouth College, Department of Biological Sciences, New Hampshire, U.S.A.;2. N.H. Division of Public Health, Bureau of Special Medical Services, New Hampshire, U.S.A.;3. Dartmouth College, Department of Biological Sciences, New Hampshire, U.S.A. N.H. Division of Public Health, Bureau of Special Medical Services, New Hampshire, U.S.A.;4. Dartmouth-Hitchcock Medical Center, Department of Pathology, New Hampshire, U.S.A. |
| Abstract: | Prenatal diagnosis of trisomy 20 mosaicism in this case was based on cytogenetic analysis of cultured amniotic fluid cells (23/52 cells were trisomy 20 representing cells from each of four primary cultures). The pregnancy continued to term and the mosaicism was confirmed in the phenotypically normal male neonate by analysis of cultured foreskin fibroblasts (7/49 cells + 20) and placental cells 20/20 cells + 20) whereas the peripheral lymphocytes were cytogenetically normal (20/20 cells were 46,XY). This represents the first confirmation of trisomy 20 mosaicism in a phenotypically normal full-term neonate. |
| Keywords: | Trisomy 20 Chromosome mosaicism Prenatal diagnosis |