An unusual combined chromosomal rearrangement in a newborn with multiple congenital malformations due to a balanced parental translocation
https://doi.org/10.25557/2073-7998.2021.06.51-60
Abstract
We report on a case of combined chromosomal pathology - partial trisomy on the terminal part of the long arm of chromosome 5 and partial trisomy on chromosome 9 in a newborn with multiple congenital malformations and karyotype 47,XY,t(5;9)(q35;q31),+der(9)t(5;9)(q35;q31)pat. The cause of the chromosomal pathology was a rare abnormality of the formation of gametes in the father’s meiosis II. He is the carrier of the autosomal reciprocal translocation t(5;9)(q35;q31). Healthy carriers of the identical t(5;9)(q35;q31) translocation were identified in three generations of this family. The clinical manifestations of the patient, the possible ways of forming the rearrangement of chromosomes, and the comparison of phenotypes based on the literature data are discussed.
About the Authors
A. G. Novikova
Moscow Regional Scientific Research Clinical Institute, Medical Department
Russian Federation
Russian Federation
N. V. Oparina
Moscow Regional Scientific Research Clinical Institute, Medical Department
Russian Federation
Russian Federation
V. G. Antonenko
Research Centre for Medical Genetics
Russian Federation
Russian Federation
M. V. Kubrina
Moscow Regional Center for Maternal and Child Health
Russian Federation
Russian Federation
Y. Y. Kotalevskaya
Moscow Regional Scientific Research Clinical Institute, Medical Department
Russian Federation
Russian Federation
S. G. Kalinenkova
Moscow Regional Scientific Research Clinical Institute, Medical Department
Russian Federation
Russian Federation
A. S. Latypov
Moscow Regional Scientific Research Clinical Institute, Medical Department
Russian Federation
Russian Federation
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Review
For citations:
Novikova A.G., Oparina N.V., Antonenko V.G., Kubrina M.V., Kotalevskaya Y.Y., Kalinenkova S.G., Latypov A.S. An unusual combined chromosomal rearrangement in a newborn with multiple congenital malformations due to a balanced parental translocation. Medical Genetics. 2021;20(6):51-60. (In Russ.) https://doi.org/10.25557/2073-7998.2021.06.51-60
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