Unbalanced mosaic karyotypes with different structural abnormalities involving a common chromosome region: Report of two cases
| Autor: | I. T. Thomas, Lisa A. Teot, J. C. Veille, P. N. Rao, Rosa Hayworth, Mark J. Pettenati, C. Smith |
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| Rok vydání: | 1993 |
| Předmět: |
Adult
medicine.medical_specialty X Chromosome Chromosome Breakpoints Chromosomal translocation Biology Translocation Genetic Cell Line Molecular cytogenetics Pregnancy Chromosome regions medicine Humans Abnormalities Multiple Genetics (clinical) Chromosome Aberrations Genetics Chromosomes Human Pair 12 Mosaicism Chromosomes Human Pair 11 Breakpoint Infant Newborn Cytogenetics Chromosome Karyotype Fetal Diseases Karyotyping Female Chromosome Deletion |
| Zdroj: | American Journal of Medical Genetics. 45:365-369 |
| ISSN: | 1096-8628 0148-7299 |
| Popis: | We report on 2 cases with different de novo unbalanced mosaic karyotypes in which each cell line had a different structural abnormality involving a common chromosome region: 46,XX,del(11)(q23.3)/46,XX,−11,+der(11)t(11;?)(q23.3;?) and 46,X,idic(Xq)/46,X,idic(Xq),−12,+der(12)t(X;12)(p11.2;p13.3). Molecular-cytogenetic analysis confirmed the origin of the derivative 12 chromosome in the latter. We present a literature review of reports with mosaic cell lines of structural chromosome abnormalities that share the same chromosome breakpoint. © 1993 Wiley-Liss, Inc. |
| Databáze: | OpenAIRE |
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