The kariotype variability in children with Down syndrome from the Odesa region
DOI:
https://doi.org/10.14739/2310-1210.2021.1.224888Keywords:
Down syndrome, cytogenetics, abnormal karyotypeAbstract
The aim of the work is to analyze the frequency of cytogenetic variants of Down syndrome among patients in Odesa and the region, as well as to identify combined karyotype anomalies.
Materials and methods. Studies were conducted between 2013–2018 years in Odesa Specialized Medical Genetic Center. The experimental group was formed of patients with cytogenetically confirmed Down syndrome. Chromosomes were painted according to GTG method and identified according to ISCN 2013.
Results. Among patients with Down syndrome, in 93.9 % of cases complete trisomy 21 was observed, the translocation form was in 3.7 %, and the mosaic form was in 2.4 %. Similar results were revealed in the analysis of populations belonging to different ethnic and racial groups. Complete trisomy 21 was accompanied by chromosome rearrangements of other chromosomes or additional modifications of chromosome 21. Changes in the heterochromatin in chromosome 9 were more frequently observed. In total, 5.5 % of examined karyotypes were found with additional heterochromatin in both arms of chromosome 1 and in the long arm of chromosome 21. An increase in the size of satellites in chromosomes 14, 15 and more often 21, as well as the appearance of additional satellites in chromosome 2 represented 3.6 % of the total examined karyotypes. A deletion on chromosome 6 involved in translocation with chromosome 13 also was found. Translocation forms included Robertsonian translocations involving chromosomes 21 and 21, 14 and 21, as well as translocations involving chromosomes 21 and 21, 21 and 22. Patients with a mosaic form of the disease had two cell lines: with a normal karyotype 3 (15–67 % of the studied cells) and with complete trisomy 21 without additional chromosomal abnormalities (33–85 % of the studied cells).
Conclusions. Among patients with cytogenetically confirmed diagnosis of Down syndrome, the ratio of the main variants was similar to many populations studied. At the same time, additional changes in the karyotype were identified which can either be a variant of the norm or aggravate the course of the disease. This requires further studies of the disease course in such patients.
References
Bochkov, N. P., Puzyrev, V. P., & Smirnikhina, S. A. (2015). Klinicheskaya genetika [Clinical genetics] (4th ed.). GEOTAR-Media. [in Russian].
Kukushkin, D. V., Vasina, T. N., Tolmachеva, E. N., & Stavtseva, S. N. (2015). Dinamika chastoty sindroma Dauna u detei Orlovskoi oblasti, klinicheskie varianty patologii, mediko-psikhologicheskoe soprovozhdenie [Dynamics of frequency of Down’s syndrome in children of Orel region, clinical variants of pathology, medical and psychological support]. Uchenye zapiski Orlovskogo gosudarstvennogo universiteta, (6), 331-333. [in Russian].
Rumiantseva, N. V., Khurs, O. M., Golovataya, E. I., Zobikova, O. L., Padliashchuk, L. V., Zubko, Y. A., Yaroshevich, E. Y., Popkova, V. N., Egorova, T. M., Gromyko, О. А., & Naumchik, I. V. (2017). Redkie formy sindroma Dauna: tsitogeneticheskie i klinicheskie kharakteristiki, mediko-geneticheskoe konsul'tirovanie [Down syndrome rare forms: cytogenetical and clinical characteristics, genetic counseling]. Sovremennye perinatal'nye meditsinskie tekhnologii v reshenii problem demograficheskoi bezopasnosti. Collection of scientific papers. (Vol. 10. pp. 298-302). Medisont. http://www.medcenter.by/documents-downloads/publicacii/akusherstvo-ginekologiya/rnpcmd_2017_10.pdf [in Russian].
Pandey, P., Verma, R. K., Kumar, N., & Koonwar, S. (2018). Down syndrome: a cytogenetic study in North Indian population. Biomedical Research, 29(19), 3556-3560. https://doi.org/10.4066/biomedicalresearch.29-18-415
Demikova, N. S., Podolnaya, M. A., Lapina, A. S., Volodin, N. N. & Asanov, A. Yu. (2019). Dinamika chastoty trisomii 21 (sindroma Dauna) v regionakh Rossiiskoi Federatsii za 2011-2017 gg. [Trisomy 21 (Down syndrome) incidence dynamics in the regions of the Russian Federation in 2011-2017]. Pediatriya, 98(2), 43-48. https://pediatriajournal.ru/archive?show=369§ion=5485 [in Russian].
Baranov, V. S., & Kuznetsova, T. V. (2006). Tsitogenetika embrional'nogo razvitiya cheloveka: Nauchno-prakticheskie aspekty [Cytogenetics of human embryonic development: Scientific and practical aspects]. Izdatel'stvo N-L. [in Russian]. https://www.booksmed.com/biologiya/2446-citogenetika-embrionalnogo-razvitiya-cheloveka-baranov.html
Shaffer, L. G., Mcgowan-Jordan, J., & Schmid, M. (Eds.). (2013). ISCN 2013: an international system for human cytogenetic nomenclature (2013): recommendations of the International Standing Committee on HumanCytogenetic Nomenclatures. Karger.
Glants, S. (1999). Mediko-biologicheskaya statistika [Biomedical statistics]. Praktika. [in Russian].
Rudnik, N., Shevchuk, T., & Poruchinska T. (2015). Rol tsytohenetychnoi diahnostyky u vyiavlenni khromosomnoi patolohii ta polimorfizmiv khromosom upostnatalnomu periodi rozvytku u Volynskii oblasti [The Role of Cytogenetic Diagnosis in Villanie Chromosomal Abnormalities and Polymorphisms of Chromosomes in the Postnatal Period of Development in Volyn Region]. Naukovyi visnyk Skhidnoievropeiskoho natsionalnoho universytetu imeni Lesi Ukrainky, (2), 204-211. https://doi.org/10.29038/2617-4723-2015-302-204-211 [in Ukrainian].
Belmokhtar, F., Belmokhtar, R., & Kerfouf, A. (2016). Cytogenetic study of down syndrome in Algeria: Report and review. Journal of Medical Sciences, 36(2), 46-52. https://doi.org/10.4103/1011-4564.181526
Kadakol, G. S., Bulagouda, R. S., Patil, S. V., & Bagoji, I. (2019). Cytogenetic Analysis of Down Syndrome. International Journal of Clinical and Biomedical Research, 5(1), 37-40. https://doi.org/10.31878/ijcbr.2018.51.10
Krishnaveni, S., Asha, K. R., Lakshmi, P. S., & Jayarama, S. K. (2018). Cytogenetic, epidemiological and clinical profile of children with Down syndrome in Karnataka. Journal of the Anatomical Society of India, 67(2), 133-138. https://doi.org/10.1016/j.jasi.2018.11.001
Daimei, T., Sinam, V., Singh, T. N., & Devi, N. D. (2015). Phenotypes and Congenital Anomalies of Down Syndrome In Manipur. IOSR Journal of Dental and Medical Sciences, 14(5), 1-9. https://doi.org/10.9790/0853-14550109
Šípek, A. Jr., Mihalová, R., Panczak, A., Hrčková, L., Janashia, M., Kaspříková, N., & Kohoutová, M. (2014). Heterochromatin variants in human karyotypes: a possible association with reproductive failure. Reproductive BioMedicine Online, 29(2), 245-250. https://doi.org/10.1016/j.rbmo.2014.04.021
Serra, A., Brahe, C., Millington-Ward, A., Neri, G., Tedeschi, B., Tassone, F., & Bova, R. (1990). Pericentric inversion of chromosome 9: prevalence in 300 Down syndrome families and molecular studies of nondisjunction. American Journal of Medical Genetics, 37(S7), 162-168. https://doi.org/10.1002/ajmg.1320370733
Ceylan, G., Ceylan, C., & Yuce, H. (2008). A rare seen case with homozygosity for pericentric inversion of chromosome 9 and primary infertility. American Journal of Case Reports, 9, 385-388.
Safina, N. Yu., Yamandi, T. A., Chernykh, V. B., Akulenko, L. V., Bogolyubov, S. V., Vityazeva, I. I., Ryzhkova, O. P., Stepanova, A. A., Adyan, T. A., Bliznets, E. A., & Polyakov, A. V. (2018). Geneticheskie faktory muzhskogo besplodiya, ikh sochetaniya i spermiologicheskaya kharakteristika muzhchin s narusheniem fertil'nosti [Genetic factors of male infertility, their combinations and the spermatological characteristics of men with fertility failures]. Andrologiya i genital'naya khirurgiya, 19(2), 40-51. https://doi.org/10.17650/2070-9781-2018-19-2-40-51 [in Russian].
Nikitchyna, T. V., Gordienko, I. Yu., Tarapurova, O. M., & Vashchenko, O. O. (2018). Polimorfizmy ta inversii khromosom v prenatalnii diahnostytsi patolohii ploda [Polymorphisms and inversions of chromosomes in prenatal diagnosis of fetal pathology]. Klinichna henetyka i perynatalna diahnostyka, (2), 34-38. [in Ukrainian].
Kovaleva, N. V. (2013). Povyshennyi risk trisomii 21 u potomstva nositelei sbalansirovannykh perestroek autosom, ne vovlekayushchikh khromosomu 21, ne obuslovlen mezhkhromosomnym effektom [Increased Risk of Trisomy 21 in Offspring of Carriers of Balanced Non&Contributing Autosomal Rearrangements Is Not Explained by Interchromosomal Effect]. Genetika, 49(2), 259-268. http://dx.doi.org/10.7868/S0016675812110045 [in Russian].
Young, D., Klepacka, D., McGarvey, M., Schoolcraft, W. B., & Katz-Jaffe, M. G. (2019). Infertility patients with chromosome inversions are not susceptible to an inter-chromosomal effect. Journal of Assisted Reproduction and Genetics, 36(3), 509-516. https://doi.org/10.1007/s10815-018-1376-1
Lyapunova, N. A., Porokhovnik, L. N., Kosyakova, N. V., Mandron, I. A., & Tsvetkova, T. G. (2017). Effects of the copy number of ribosomal genes (genes for rRNA) on viability of subjects with chromosomal abnormalities. Gene, 611, 47-53. https://doi.org/10.1016/j.gene.2017.02.027
Kolesnikova, I. S., Dolskiy, A. A., Lemskaya, N. A., Maksimova, Y. V., Shorina, A. R., Graphodatsky, A. S., Galanina, E. M., & Yudkin, D. V. (2018). Alteration of rRNA gene copy number and expression in patients with intellectual disability and heteromorphic acrocentric chromosomes. Egyptian Journal of Medical Human Genetics, 19(2), 129-134. https://doi.org/10.1016/j.ejmhg.2017.08.010
Vikraman, S., Chandra, V., Balakrishanan, B., Batra, M., Kuriakose, R., & Kannoly, G. (2015). A rare balanced parental t (21q; 21q) Robertsonian translocation that results in Down syndrome in all viable pregnancies. International Journal of Reproduction, Contraception, Obstetrics and Gynecology, 4(2), 514-517. https://doi.org/10.5455/2320-1770.ijrcog20150451
Dolskiy, A. A., Lemskaya, N. A., Maksimova, Y. V., Shorina, A. R., Kolesnikova, I. S., & Yudkin, D. V. (2018). Robertsonian translocation 13/14 associated with rRNA genes overexpression and intellectual disability. Egyptian Journal of Medical Human Genetics, 19(2), 141-145. https://doi.org/10.1016/j.ejmhg.2017.11.002
Chang, Y. L., Yi, W. P., Chao, A. S., Chen, K. J., Cheng, P. J., Wang, T. H., & Chang, S. D. (2017). Monozygotic twins discordant for trisomy 21: Discussion of etiological events involved. Taiwanese Journal of Obstetrics and Gynecology, 56(5), 681-685. https://doi.org/10.1016/j.tjog.2017.08.019
Kovaleva, N. V. (2002). Sootnoshenie polov pri bolezni Dauna [Sex Ratio in Down Syndrome]. Tsytolohiia i henetyka, 36(6), 54-69. http://cytgen.com/ru/2002/54-69N6V36.htm [in Russian].
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