Mosaic triple trisomy in amniocytes from a phenotypically and karyotypically normal fetus |
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| Authors: | J T Mascarello M C Jones V A Catanzarit Kathryn H Brown |
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| Institution: | 1. Genetic Services, Children's Hospital—San Diego, San Diego, California, U.S.A.;2. Maternal—Fetal Medicine, Mary Birch Hospital for Women at Sharp Memorial Hospital, San Diego, California, U.S.A.;3. Division of Obstetrics and Gynecology, Scripps Clinic and Research Foundation, San Diego, California, U.S.A. |
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| Abstract: | We report the detection of a mosaic triple trisomy, 46, XY/49, XY, + 13, +20, +21, in two amniotic fluid specimens obtained from a pregnancy that yielded a normal infant. Traditional cytogenetic methods failed to detect the abnormal cell lineage in fetal blood, foreskin, amnion, umbilical cord, and three different biopsies of the chorion. In addition, fluorescence in situ hybridization study of cells from a buccal smear showed no evidence of cells with three copies of chromosome 20. |
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| Keywords: | Mosaic triple trisomy trisomy 20 |
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