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

Volkov A.N., Babarykina T.A., Rytenkova O.I., Larionov A.V.

1 Kemerovo State Medical University, Ministry of Health of Russia; 2 Kemerovo Regional Clinical Hospital, Kemerovo, Russia; 3 Kemerovo State University, Russia
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.

Keywords

non-developing pregnancy
cytogenetic analysis
monosomy 21

References

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Received 02.10.2017

Accepted 27.10.2017

About the Authors

Volkov, Aleksey N., candidate of biological sciences, the senior research assistant, Central research laboratory of Kemerovo State Medical University.
650029, Russia, Kemerovo, Voroshilova str. 22a. E-mail: volkov_alex@rambler.ru
Babarikina, Tatyana A., laboratory technician, medical-genetic consultation department, Kemerovo regional clinical hospital.
650000, Russia, Kemerovo, Oktyabrskiy Ave. 22
Ritenkova, Oksana I., doctor – laboratory geneticist, medical-genetic consultation department, Kemerovo regional clinical hospital.
650000, Russia, Kemerovo, Oktyabrskiy Ave. 22
Larionov, Aleksey V., candidate of biological sciences, assistant, department of genetics of Kemerovo State University.
650043, Russia, Kemerovo, Krasnaya str. 6

For citations: Volkov A.N., Babarykina T.A., Rytenkova O.I., Larionov A.V. Monosomy 21 in abortus materials: description of a clinical case and analysis of the literature.Akusherstvo i Ginekologiya/Obstetrics and Gynecology. 2018; (9): 176-80. (in Russian)
https://dx.doi.org/10.18565/aig.2018.9.176-180

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