A case of deletion 8q22.2q22.3 in a child with de novo balanced translocation t(1;6)
https://doi.org/10.25557/2073-7998.2021.04.49-56
Abstract
Identification of the etiopathogenesis of the abnormal phenotype in patients with balanced translocations is current trend in cytogenetic laboratories. The formation of developmental anomalies can be associated with the presence of a cryptic genomic imbalance both at breakpoints and on chromosomes not involved in rearrangements.The aim of this study is diagnostics of genomic imbalance in a patient with balanced translocation and abnormal phenotype. The case was characterized by GTG-banding, chromosomal microarray analysis and FISH diagnosis. We present a new case of deletion 8q22.2-q22.3 in child with balanced translocation t(1;6) and developmental delay/congenital defects due to deletion.
About the Authors
M. E. Minzhenkova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
Z. G. Markova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
I. V. Anisimova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
I. V. Kanivetc
Research Centre for Medical Genetics
Russian Federation
Russian Federation
N. V. Shilova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
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Review
For citations:
Minzhenkova M.E., Markova Z.G., Anisimova I.V., Kanivetc I.V., Shilova N.V. A case of deletion 8q22.2q22.3 in a child with de novo balanced translocation t(1;6). Medical Genetics. 2021;20(4):49-56. (In Russ.) https://doi.org/10.25557/2073-7998.2021.04.49-56
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