Formation of inverted duplication contiguous to a terminal deletion of short arm of chromosome 8
https://doi.org/10.25557/2073-7998.2020.01.6-12
Abstract
Inverted duplication deletion 8p syndrome (inv dup del(8p)) is a rare chromosomal abnormality with a frequency of 1:10,000 – 30,000 newborns. Clinical manifestations of this syndrome include mental retardation, facial anomalies, hypoplasia/agenesis of corpus callosum, scoliosis and/or kyphosis, hypotonia, congenital heart defects.
Several models are proposed to explain the formation of inverted duplications adjacent to terminal deletions in the human genome. The features of inv dup del (8p) formation mechanisms and reported data on molecular cytogenetic characteristics of chromosomal rearrangement are considering in this review.
Supporting agencies: The research was carried out within the state assignment of Ministry of Science and Higher Education of the Russian Federation.
About the Authors
D. A. Yurchenko
Research Centre for Medical Genetics n.a. N.P. Bochkov
Russian Federation
Russian Federation
Yurchenko Daria
Moscow
E. L. Dadali
Research Centre for Medical Genetics n.a. N.P. Bochkov
Russian Federation
Moscow
Russian Federation
Moscow
N. V. Shilova
Research Centre for Medical Genetics n.a. N.P. Bochkov
Russian Federation
Moscow
Russian Federation
Moscow
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Review
For citations:
Yurchenko D.A., Dadali E.L., Shilova N.V. Formation of inverted duplication contiguous to a terminal deletion of short arm of chromosome 8. Medical Genetics. 2020;19(1):6-12. (In Russ.) https://doi.org/10.25557/2073-7998.2020.01.6-12
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