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Complex karyotypic mosaicism as a result of non-disjunction and subsequent centromere fission |
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| Authors: | Gayathri Prabhakar Stuart Schwartz Elizabeth Waters Cecile Punzalan Maimon M Cohen |
| Institution: | 1. Division of Human Genetics, Department of Obstetrics/Gynecology and Pediatrics, University of Maryland at Baltimore, Baltimore, Maryland, U.S.A.;2. Division of Human Genetics, Department of Obstetrics/Gynecology and Pediatrics, University of Maryland at Baltimore, Baltimore, Maryland, U.S.A.
Center for Human Genetics, Case Western Reserve University, Cleveland, Ohio, U.S.A.;3. Division of Human Genetics, Department of Obstetrics/Gynecology and Pediatrics, University of Maryland at Baltimore, Baltimore, Maryland, U.S.A. The Medical Biotechnology Center, University of Maryland at Baltimore, Baltimore, Maryland, U.S.A. |
| Abstract: | Karyotypic discrepancy among four different cell types is described in tissues derived from a pregnancy terminated because of chromosomal anomalies. Chorionic villus cells demonstrated 46,XX (direct preparation) and 46, XX/47,XX,+marl (cultured cells) karyotypes, while fetal skin fibroblasts had a karyotype of 47,XX,+ 18 and the placenta showed a triple mosaicism of 47,XX, + 18/47,XX,+mar1/48,XX,+ 18,+mar2. The origin of this complex chromosomal distribution and its significance are discussed in comparison with findings in similar cases. |
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