Double autosomal/gonosomal mosaic aneuploidy: study of nondisjunction in two cases with trisomy of chromosome 8 |
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Authors: | Daniele DeBrasi Maurizio Genuardi Antonio D'Agostino Fabrizio Calvieri Carla Tozzi Stelio Varrone Giovanni Neri |
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Affiliation: | (1) Servizio Speciale di Citogenetica, Facolta' di Medicina e Chirurgia, Universita' Federico II, Napoli, Italy;(2) CEINGE, Facolta' di Medicina e Chirurgia, Universita' Federico II, Napoli, Italy;(3) Istituto di Genetica Medica, Facolta' di Medicina e Chirurgia A. Gemelli, Universita' Cattolica del Sacro Cuore, Largo Francesco Vito, 1, I-00168 Rome, Italy;(4) Laboratorio di Citogenetica, Ospedale S. Giovanni, Rome, Italy |
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Abstract: | We report cytogenetic and molecular investigations performed in two cases of mosaic trisomy 8 combined with mosaic sex chromosome aneuploidy. In a 35-year-old female, presenting with short stature, gonadal dysgenesis, and a multiple congenital anomalies/mental retardation syndrome typical of trisomy 8, chromosome analysis from peripheral lymphocytes showed the presence of three cell lines, whose karyotypes were 45,X (59.2%), 46,X,+8 (1.2%), and 47,XX,+8 (39.6%), respectively. The same cell lines were found in a skin fibroblast culture, though in different proportions. The second patient, a 9-month-old male with multiple skeletal abnormalities, showed a 47,XY,+8 and a 47,XXY cell line in both peripheral lymphocytes (61.7% and 38.3%, respectively) and skin fibroblasts (92.8% and 7.2%, respectively). To determine the events underlying the origin of these complex karyotypes we performed Southern blot and polymerase chain reaction (PCR) analysis using polymorphic DNA markers from the X chromosome and from chromosome 8. Both supernumerary chromosomes 8, and, in case 2, the two X chromosomes, appeared to be identical, lacking detectable recombination events. We conclude that, in both cases, the most likely mechanism underlying the origin of the mosaic cell lines was formation of a normal zygote, followed by mitotic errors during early divisions. |
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