Publication: Unbalanced translocation, t(18;21), detected by fluorescence in situ hybridization (FISH) in a child with 18q- syndrome and a ring chromosome 21
Unbalanced translocation, t(18;21), detected by fluorescence in situ hybridization (FISH) in a child with 18q- syndrome and a ring chromosome 21
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McGinniss, M. J., Rosenberg, C., Stetten, G., Schinzel, A. A., Binkert, F., Petersen, M. B., Kearns, W. G., Kazazian, H. H., Pearson, P. L., & Antonarakis, S. E. (1993). Unbalanced translocation, t(18;21), detected by fluorescence in situ hybridization (FISH) in a child with 18q- syndrome and a ring chromosome 21. American Journal of Medical Genetics, 46(6), 647–651. https://doi.org/10.1002/ajmg.1320460609
Abstract
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Abstract
We report on an 8-year-old girl with minor anomalies consistent with 18q- syndrome and mild developmental delay. Initially cytogenetics showed a terminal deletion of chromosome 21 with mosaicism for a small ring chromosome 21 as the only apparent karyotypic abnormality: mos 45,XX,-21/46,XX,+r(21) (48%/52%). Further studies including FISH and DNA analysis demonstrated a de novo unbalanced translocation of chromosomes 18 and 21 with the likely breakpoints in 18q23 and 21q21.1. Most of 21q was translocated to the distal long arm of one c
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- McGinniss, Matthew J
- Rosenberg, Carla
- Stetten, Gail
- Schinzel, Albert A
- Binkert, Franz
- Petersen, Michael B
- Kearns, William G
- Kazazian, Haig H
- Pearson, Peter L
- Antonarakis, Stylianos E
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McGinniss, M. J., Rosenberg, C., Stetten, G., Schinzel, A. A., Binkert, F., Petersen, M. B., Kearns, W. G., Kazazian, H. H., Pearson, P. L., & Antonarakis, S. E. (1993). Unbalanced translocation, t(18;21), detected by fluorescence in situ hybridization (FISH) in a child with 18q- syndrome and a ring chromosome 21. American Journal of Medical Genetics, 46(6), 647–651. https://doi.org/10.1002/ajmg.1320460609
