Monosomy 21 in abortus materials: description of a clinical case and analysis of the literature


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Abstract

Background. Chromosomal abnormalities are a leading cause of non-developing pregnancy. Numerous cytogenetic studies have shown that trisomies and polyploidies are a predominant type of genetic disorders in abortuses. According to many studies, chromosomal losses are mainly related to the X chromosome. Autosomal monosomies in the abortuses are considered to be a unique event; their qualitative spectrum and rate have not been previously studied systematically. Case report. The investigators carried out a cytogenetic analysis of the villus cells of the chorion obtained during artificial termination of non-developing pregnancy in a 39-year-old woman. All the analyzed chorionic cells in the abortus had a monosomy 21 karyotype. That this abnormality in embryos can be detected during non-developing pregnancy is confirmed by the previously described cases. Conclusion. Monosomy 21 in at least some cases is compatible with embryonic development up to 8 weeks or more of pregnancy. However, also fully monosomy and its mosaic variants generally lead to intrauterine embryonic death in the first trimester of pregnancy. The rate of abnormalities in the abortuses does not usually exceed 0.8% of the total number of samples with chromosomal abnormalities.

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About the authors

Aleksey N. Volkov

Kemerovo State Medical University

Email: volkov_alex@rambler.ru
candidate of biological sciences, the senior research assistant, Central research laboratory

Tatyana A. Babarykina

Kemerovo regional clinical hospital

laboratory technician, medical-genetic consultation department

Oksana I. Rytenkova

Kemerovo regional clinical hospital

doctor - laboratory geneticist, medical-genetic consultation department

Aleksey V. Larionov

Kemerovo State University

candidate of biological sciences, assistant, department of genetics

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