Clinical genetic description and analysis of the case of chromosomal mosaicism mos47,XY,+8/46,XY
https://doi.org/10.20538/1682-0363-2021-1-213-217
Abstract
The article describes a clinical case of chromosomal mosaicism in a boy, 4 months and 3 weeks old. Cytogenetic analysis of peripheral blood lymphocytes of the child made it possible to establish the karyotype mos47,XY,+8/46,XY with an approximately equal ratio of normal and abnormal cells. The pathogenetic effects of the mosaic form of trisomy 8 are discussed. The authors discussed the results of examination of the patient’s mother during pregnancy as part of a combined prenatal screening for congenital and hereditary diseases. The difficulty in prenatal diagnosis of chromosomal mosaicism is noted and explained by the lack of specific biochemical and ultrasound markers.
However, in late pregnancy, ultrasound signs of impaired development of the brain, heart and kidneys associated with a chromosomal abnormality can be detected.
About the Authors
s L. Nersesyan
Kemerovo Regional Clinical Hospital named after S.V. Belyaev
Russian Federation
Russian Federation
22, Oktyabrskiy Av., Kemerovo, 650066, Russian Federation
O. I. Ritenkova
Kemerovo Regional Clinical Hospital named after S.V. Belyaev
Russian Federation
Russian Federation
22, Oktyabrskiy Av., Kemerovo, 650066, Russian Federation
A. N. Volkov
Kemerovo Regional Clinical Hospital named after S.V. Belyaev;
Kemerovo State Medical University
Russian Federation
Russian Federation
22, Oktyabrskiy Av., Kemerovo, 650066, Russian Federation
22a, Voroshilova Str., Kemerovo, 650066, Russian Federation
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Review
For citations:
Nersesyan s.L., Ritenkova O.I., Volkov A.N. Clinical genetic description and analysis of the case of chromosomal mosaicism mos47,XY,+8/46,XY. Bulletin of Siberian Medicine. 2021;20(1):213-217. https://doi.org/10.20538/1682-0363-2021-1-213-217
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