Clinical genetic description and analysis of the case of chromosomal mosaicism mos47,XY,+8/46,XY

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.

Keywords

• пренатальная диагностика
• трисомия 8
• хромосомный мозаицизм
• цитогенетический анализ