Mosaic unbalanced translocations de novo: diagnosis of two clinical cases and review of the literature
https://doi.org/10.25557/2073-7998.2018.10.46-50
Abstract
We report on a molecular cytogenetic diagnosis of mosaicism with an unbalanced autosomal translocation and a normal cell line. Case 1. The patient was referred for evaluation because of developmental delay. The karyotype of this patient was normal. Chromosomal micro-array analysis detected a terminal deletion of the short arm of chromosome 8 and a terminal duplication of the long arm of chromosome 10. Additional FISH analysis showed an unbalanced translocation in 77% and a normal karyotype in 23% of cells. Case 2. The patient was referred for Сri-du-chat syndrome. Chromosome analysis revealed a derivative chromosome 5. FISH analysis showed a mosaic karyotype with an unbalanced translocation in 88% and a normal karyotype in 12% of cells.
About the Authors
M. E. Minzhenkova
Research Centre for Medical Genetics, Moscow
Russian Federation
Russian Federation
Z. G. Markova
Research Centre for Medical Genetics, Moscow
Russian Federation
Russian Federation
N. Y. Kuzina
Research Centre for Medical Genetics, Moscow
Russian Federation
Russian Federation
M. S. Petuhova
Research Centre for Medical Genetics, Moscow
Russian Federation
Russian Federation
G. N. Matushenko
Research Centre for Medical Genetics, Moscow
Russian Federation
Russian Federation
N. V. Shilova
Research Centre for Medical Genetics, Moscow
Russian Federation
Russian Federation
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Review
For citations:
Minzhenkova M.E., Markova Z.G., Kuzina N.Y., Petuhova M.S., Matushenko G.N., Shilova N.V. Mosaic unbalanced translocations de novo: diagnosis of two clinical cases and review of the literature. Medical Genetics. 2018;17(10):46-50. (In Russ.) https://doi.org/10.25557/2073-7998.2018.10.46-50
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