{"id":9519,"date":"2024-08-02T16:15:19","date_gmt":"2024-08-02T13:15:19","guid":{"rendered":"https:\/\/medilab.km.ua\/?p=9519"},"modified":"2026-04-20T18:55:29","modified_gmt":"2026-04-20T15:55:29","slug":"karyotyping-as-chromosome-analysis-helps-to-understand-health","status":"publish","type":"post","link":"https:\/\/medilab.km.ua\/en\/karyotyping-as-chromosome-analysis-helps-to-understand-health\/","title":{"rendered":"Karyotyping: How chromosome analysis helps understand health"},"content":{"rendered":"<div class=\"kk-star-ratings kksr-auto kksr-align-left kksr-valign-top\"\n    data-payload='{&quot;align&quot;:&quot;left&quot;,&quot;id&quot;:&quot;9519&quot;,&quot;slug&quot;:&quot;default&quot;,&quot;valign&quot;:&quot;top&quot;,&quot;ignore&quot;:&quot;&quot;,&quot;reference&quot;:&quot;auto&quot;,&quot;class&quot;:&quot;&quot;,&quot;count&quot;:&quot;2271&quot;,&quot;legendonly&quot;:&quot;&quot;,&quot;readonly&quot;:&quot;&quot;,&quot;score&quot;:&quot;4.9&quot;,&quot;starsonly&quot;:&quot;&quot;,&quot;best&quot;:&quot;5&quot;,&quot;gap&quot;:&quot;5&quot;,&quot;greet&quot;:&quot;Rate this post&quot;,&quot;legend&quot;:&quot;4.9\\\/5 - (2271 votes)&quot;,&quot;size&quot;:&quot;24&quot;,&quot;title&quot;:&quot;\u041a\u0430\u0440\u0456\u043e\u0442\u0438\u043f\u0443\u0432\u0430\u043d\u043d\u044f: \u044f\u043a \u0430\u043d\u0430\u043b\u0456\u0437 \u0445\u0440\u043e\u043c\u043e\u0441\u043e\u043c \u0434\u043e\u043f\u043e\u043c\u0430\u0433\u0430\u0454 \u0437\u0440\u043e\u0437\u0443\u043c\u0456\u0442\u0438 \u0437\u0434\u043e\u0440\u043e\u0432\u2019\u044f&quot;,&quot;width&quot;:&quot;139.6&quot;,&quot;_legend&quot;:&quot;{score}\\\/{best} - ({count} {votes})&quot;,&quot;font_factor&quot;:&quot;1.25&quot;}'>\n            \n<div class=\"kksr-stars\">\n    \n<div class=\"kksr-stars-inactive\">\n            <div class=\"kksr-star\" data-star=\"1\" style=\"padding-right: 5px\">\n            \n\n<div class=\"kksr-icon\" style=\"width: 24px; height: 24px;\"><\/div>\n        <\/div>\n            <div class=\"kksr-star\" data-star=\"2\" style=\"padding-right: 5px\">\n            \n\n<div class=\"kksr-icon\" style=\"width: 24px; height: 24px;\"><\/div>\n        <\/div>\n            <div class=\"kksr-star\" data-star=\"3\" style=\"padding-right: 5px\">\n            \n\n<div class=\"kksr-icon\" style=\"width: 24px; height: 24px;\"><\/div>\n        <\/div>\n            <div class=\"kksr-star\" data-star=\"4\" style=\"padding-right: 5px\">\n            \n\n<div class=\"kksr-icon\" style=\"width: 24px; height: 24px;\"><\/div>\n        <\/div>\n            <div class=\"kksr-star\" data-star=\"5\" style=\"padding-right: 5px\">\n            \n\n<div class=\"kksr-icon\" style=\"width: 24px; height: 24px;\"><\/div>\n        <\/div>\n    <\/div>\n    \n<div class=\"kksr-stars-active\" style=\"width: 139.6px;\">\n            <div class=\"kksr-star\" style=\"padding-right: 5px\">\n            \n\n<div class=\"kksr-icon\" style=\"width: 24px; height: 24px;\"><\/div>\n        <\/div>\n            <div class=\"kksr-star\" style=\"padding-right: 5px\">\n            \n\n<div class=\"kksr-icon\" style=\"width: 24px; height: 24px;\"><\/div>\n        <\/div>\n            <div class=\"kksr-star\" style=\"padding-right: 5px\">\n            \n\n<div class=\"kksr-icon\" style=\"width: 24px; height: 24px;\"><\/div>\n        <\/div>\n            <div class=\"kksr-star\" style=\"padding-right: 5px\">\n            \n\n<div class=\"kksr-icon\" style=\"width: 24px; height: 24px;\"><\/div>\n        <\/div>\n            <div class=\"kksr-star\" style=\"padding-right: 5px\">\n            \n\n<div class=\"kksr-icon\" style=\"width: 24px; height: 24px;\"><\/div>\n        <\/div>\n    <\/div>\n<\/div>\n                \n\n<div class=\"kksr-legend\" style=\"font-size: 19.2px;\">\n            4.9\/5 - (2271 votes)    <\/div>\n    <\/div>\n<h2 class=\"\" data-start=\"518\" data-end=\"604\">\u00abWhy can\u2019t we have a child?\u00bb is often where the path to karyotyping begins.<\/h2>\n<p class=\"\" data-start=\"606\" data-end=\"1039\">Couples who have been trying to get pregnant for a long time, women after miscarriages, parents of a child with genetic abnormalities - they are the ones who most often learn about the study called <strong data-start=\"784\" data-end=\"802\">karyotyping<\/strong>. This test does not show glucose levels or hormones \u2013 it shows <strong data-start=\"866\" data-end=\"899\">architecture of human chromosomes<\/strong>, that is, the deepest level of our body&#039;s structure. Sometimes it is there - in changes invisible to the eye - that the cause of many medical problems lies.<\/p>\n<h2 class=\"\" data-start=\"1041\" data-end=\"1066\">What is karyotyping?<\/h2>\n<p class=\"\" data-start=\"1068\" data-end=\"1302\">Karyotyping is <strong data-start=\"1088\" data-end=\"1197\">cytogenetic study, which allows you to see the number, shape, and structure of chromosomes in human cells<\/strong>. Normally, a person has 46 chromosomes (23 pairs), of which one pair determines sex (XX in women, XY in men).<\/p>\n<p class=\"\" data-start=\"1304\" data-end=\"1333\">The study allows to identify:<\/p>\n<ul data-start=\"1335\" data-end=\"1520\">\n<li class=\"\" data-start=\"1335\" data-end=\"1367\">\n<p class=\"\" data-start=\"1337\" data-end=\"1367\">extra or missing chromosomes<\/p>\n<\/li>\n<li class=\"\" data-start=\"1368\" data-end=\"1418\">\n<p class=\"\" data-start=\"1370\" data-end=\"1418\">translocations (exchange of regions between chromosomes)<\/p>\n<\/li>\n<li class=\"\" data-start=\"1419\" data-end=\"1457\">\n<p class=\"\" data-start=\"1421\" data-end=\"1457\">inversions (fragment flipping)<\/p>\n<\/li>\n<li class=\"\" data-start=\"1458\" data-end=\"1520\">\n<p class=\"\" data-start=\"1460\" data-end=\"1520\">duplications or deletions (excess or missing parts of DNA)<\/p>\n<\/li>\n<\/ul>\n<h2 class=\"\" data-start=\"1522\" data-end=\"1556\">When is karyotyping prescribed?<\/h2>\n<ul data-start=\"1558\" data-end=\"1926\">\n<li class=\"\" data-start=\"1558\" data-end=\"1596\">\n<p class=\"\" data-start=\"1560\" data-end=\"1596\"><strong data-start=\"1560\" data-end=\"1594\">Infertility or repeated miscarriages<\/strong><\/p>\n<\/li>\n<li class=\"\" data-start=\"1597\" data-end=\"1641\">\n<p class=\"\" data-start=\"1599\" data-end=\"1641\"><strong data-start=\"1599\" data-end=\"1639\">Planning a pregnancy after 35 years<\/strong><\/p>\n<\/li>\n<li class=\"\" data-start=\"1642\" data-end=\"1689\">\n<p class=\"\" data-start=\"1644\" data-end=\"1689\"><strong data-start=\"1644\" data-end=\"1687\">Suspicion of genetic disorders in the child<\/strong><\/p>\n<\/li>\n<li class=\"\" data-start=\"1690\" data-end=\"1720\">\n<p class=\"\" data-start=\"1692\" data-end=\"1720\"><strong data-start=\"1692\" data-end=\"1718\">Congenital malformations<\/strong><\/p>\n<\/li>\n<li class=\"\" data-start=\"1721\" data-end=\"1771\">\n<p class=\"\" data-start=\"1723\" data-end=\"1771\"><strong data-start=\"1723\" data-end=\"1769\">Mental or physical developmental delay<\/strong><\/p>\n<\/li>\n<li class=\"\" data-start=\"1772\" data-end=\"1807\">\n<p class=\"\" data-start=\"1774\" data-end=\"1807\"><strong data-start=\"1774\" data-end=\"1805\">Abnormalities of sexual development<\/strong><\/p>\n<\/li>\n<li class=\"\" data-start=\"1808\" data-end=\"1851\">\n<p class=\"\" data-start=\"1810\" data-end=\"1851\"><strong data-start=\"1810\" data-end=\"1849\">Presence of hereditary diseases in the family<\/strong><\/p>\n<\/li>\n<li class=\"\" data-start=\"1852\" data-end=\"1926\">\n<p class=\"\" data-start=\"1854\" data-end=\"1926\"><strong data-start=\"1854\" data-end=\"1926\">Suspicion of chromosomal diseases: <a href=\"https:\/\/medilab.km.ua\/en\/down-syndrome-symptoms-that-you-should-have-felt-earlier\/\">Down syndrome<\/a>, Turner, Klinefelter<\/strong><\/p>\n<\/li>\n<\/ul>\n<p><img decoding=\"async\" class=\"alignnone size-full wp-image-9521\" src=\"https:\/\/medilab.km.ua\/wp-content\/uploads\/2025\/05\/krupnym-planom-biznesmen-s-cifrovym-plansetom.jpg\" alt=\"Karyogram with sex chromosomes labeled\" width=\"1200\" height=\"800\" srcset=\"https:\/\/medilab.km.ua\/wp-content\/uploads\/2025\/05\/krupnym-planom-biznesmen-s-cifrovym-plansetom.jpg 1200w, https:\/\/medilab.km.ua\/wp-content\/uploads\/2025\/05\/krupnym-planom-biznesmen-s-cifrovym-plansetom-150x100.jpg 150w, https:\/\/medilab.km.ua\/wp-content\/uploads\/2025\/05\/krupnym-planom-biznesmen-s-cifrovym-plansetom-600x400.jpg 600w, https:\/\/medilab.km.ua\/wp-content\/uploads\/2025\/05\/krupnym-planom-biznesmen-s-cifrovym-plansetom-300x200.jpg 300w, https:\/\/medilab.km.ua\/wp-content\/uploads\/2025\/05\/krupnym-planom-biznesmen-s-cifrovym-plansetom-1024x683.jpg 1024w, https:\/\/medilab.km.ua\/wp-content\/uploads\/2025\/05\/krupnym-planom-biznesmen-s-cifrovym-plansetom-768x512.jpg 768w\" sizes=\"(max-width: 1200px) 100vw, 1200px\" \/><\/p>\n<h2 class=\"\" data-start=\"1928\" data-end=\"1958\">How the research is done<\/h2>\n<ol data-start=\"1960\" data-end=\"2243\">\n<li class=\"\" data-start=\"1960\" data-end=\"1989\">\n<p class=\"\" data-start=\"1963\" data-end=\"1989\"><strong data-start=\"1963\" data-end=\"1987\">Venous blood sampling<\/strong><\/p>\n<\/li>\n<li class=\"\" data-start=\"1990\" data-end=\"2049\">\n<p class=\"\" data-start=\"1993\" data-end=\"2049\"><strong data-start=\"1993\" data-end=\"2017\">Lymphocyte isolation<\/strong> \u2013 cells that divide rapidly<\/p>\n<\/li>\n<li class=\"\" data-start=\"2050\" data-end=\"2100\">\n<p class=\"\" data-start=\"2053\" data-end=\"2100\"><strong data-start=\"2053\" data-end=\"2098\">Treatment with drugs that stimulate mitosis<\/strong><\/p>\n<\/li>\n<li class=\"\" data-start=\"2101\" data-end=\"2147\">\n<p class=\"\" data-start=\"2104\" data-end=\"2147\"><strong data-start=\"2104\" data-end=\"2145\">Cell fixation and chromosome staining<\/strong><\/p>\n<\/li>\n<li class=\"\" data-start=\"2148\" data-end=\"2243\">\n<p class=\"\" data-start=\"2151\" data-end=\"2243\"><strong data-start=\"2151\" data-end=\"2208\">Microscopic study of chromosomes and construction of a karyogram<\/strong> \u2013 schematic representation of chromosomes<\/p>\n<\/li>\n<\/ol>\n<p class=\"\" data-start=\"2245\" data-end=\"2376\">The procedure is not painful. The result is usually ready within 10\u201314 days, as it takes time for the cells to grow in the laboratory.<\/p>\n<h2 class=\"\" data-start=\"2378\" data-end=\"2406\">What can a karyotype show?<\/h2>\n<div class=\"_tableContainer_16hzy_1\">\n<div class=\"_tableWrapper_16hzy_14 group flex w-fit flex-col-reverse\">\n<table class=\"w-fit min-w-(--thread-content-width)\" data-start=\"2408\" data-end=\"2869\">\n<thead data-start=\"2408\" data-end=\"2446\">\n<tr data-start=\"2408\" data-end=\"2446\">\n<th data-start=\"2408\" data-end=\"2424\" data-col-size=\"sm\">Type of violation<\/th>\n<th data-start=\"2424\" data-end=\"2434\" data-col-size=\"sm\">Example<\/th>\n<th data-start=\"2434\" data-end=\"2446\" data-col-size=\"md\">Consequences<\/th>\n<\/tr>\n<\/thead>\n<tbody data-start=\"2486\" data-end=\"2869\">\n<tr data-start=\"2486\" data-end=\"2561\">\n<td data-start=\"2486\" data-end=\"2497\" data-col-size=\"sm\">Trisomy<\/td>\n<td data-start=\"2497\" data-end=\"2525\" data-col-size=\"sm\">47,XX,+21 (Down syndrome)<\/td>\n<td data-start=\"2525\" data-end=\"2561\" data-col-size=\"md\">Mental retardation, heart defects<\/td>\n<\/tr>\n<tr data-start=\"2562\" data-end=\"2626\">\n<td data-start=\"2562\" data-end=\"2574\" data-col-size=\"sm\">Monosomy<\/td>\n<td data-start=\"2574\" data-end=\"2599\" data-col-size=\"sm\">45,X (Turner syndrome)<\/td>\n<td data-start=\"2599\" data-end=\"2626\" data-col-size=\"md\">Short stature, infertility<\/td>\n<\/tr>\n<tr data-start=\"2627\" data-end=\"2700\">\n<td data-start=\"2627\" data-end=\"2642\" data-col-size=\"sm\">Translocation<\/td>\n<td data-start=\"2642\" data-end=\"2653\" data-col-size=\"sm\">t(14;21)<\/td>\n<td data-start=\"2653\" data-end=\"2700\" data-col-size=\"md\">Genetic instability, risk to offspring<\/td>\n<\/tr>\n<tr data-start=\"2701\" data-end=\"2786\">\n<td data-start=\"2701\" data-end=\"2712\" data-col-size=\"sm\">Inversion<\/td>\n<td data-start=\"2712\" data-end=\"2729\" data-col-size=\"sm\">inv(9)(p11q13)<\/td>\n<td data-start=\"2729\" data-end=\"2786\" data-col-size=\"md\">Often asymptomatic, but can affect fertility<\/td>\n<\/tr>\n<tr data-start=\"2787\" data-end=\"2869\">\n<td data-start=\"2787\" data-end=\"2799\" data-col-size=\"sm\">Mosaicism<\/td>\n<td data-start=\"2799\" data-end=\"2817\" data-col-size=\"sm\">46,XX\/47,XX,+18<\/td>\n<td data-start=\"2817\" data-end=\"2869\" data-col-size=\"md\">Partial form of trisomy, variable clinical picture<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<div class=\"sticky end-(--thread-content-margin) h-0 self-end select-none\">\n<div class=\"absolute end-0 flex items-end\"><\/div>\n<\/div>\n<\/div>\n<\/div>\n<h2 class=\"\" data-start=\"2871\" data-end=\"2914\">Karyotyping in reproductive medicine<\/h2>\n<p class=\"\" data-start=\"2916\" data-end=\"3261\">In 30\u201350% cases of miscarriage, <strong data-start=\"2971\" data-end=\"3005\">genetic disorders in the embryo<\/strong>, which are incompatible with life. Karyotype analysis in parents helps to detect hidden translocations or mutations that could be transmitted to the child. This study is also important before IVF programs - to select embryos without chromosomal defects (using PGT).<\/p>\n<h2 class=\"\" data-start=\"3263\" data-end=\"3282\">Limitations of the method<\/h2>\n<ul data-start=\"3284\" data-end=\"3515\">\n<li class=\"\" data-start=\"3284\" data-end=\"3367\">\n<p class=\"\" data-start=\"3286\" data-end=\"3367\">Does not detect <strong data-start=\"3297\" data-end=\"3324\">point mutations in genes<\/strong> \u2013 this requires molecular analysis<\/p>\n<\/li>\n<li class=\"\" data-start=\"3368\" data-end=\"3425\">\n<p class=\"\" data-start=\"3370\" data-end=\"3425\">Does not show <strong data-start=\"3381\" data-end=\"3423\">metabolic or functional disorders<\/strong><\/p>\n<\/li>\n<li class=\"\" data-start=\"3426\" data-end=\"3515\">\n<p class=\"\" data-start=\"3428\" data-end=\"3515\">Requires <strong data-start=\"3436\" data-end=\"3466\">lengthy sample preparation<\/strong> \u2013 therefore not used for rapid diagnosis<\/p>\n<\/li>\n<\/ul>\n<h2 class=\"\" data-start=\"3517\" data-end=\"3556\">What to do after receiving the result<\/h2>\n<p class=\"\" data-start=\"3558\" data-end=\"3837\">The interpretation of the karyotype should be carried out by <strong data-start=\"3598\" data-end=\"3619\">clinical geneticist<\/strong>. The detection of structural rearrangements does not always mean pathology - in some people they may be without clinical manifestations (the so-called variants of the norm). If the changes confirm the risks to the offspring, the doctor may suggest:<\/p>\n<ul data-start=\"3839\" data-end=\"3979\">\n<li class=\"\" data-start=\"3839\" data-end=\"3862\">\n<p class=\"\" data-start=\"3841\" data-end=\"3862\">re-examination<\/p>\n<\/li>\n<li class=\"\" data-start=\"3863\" data-end=\"3898\">\n<p class=\"\" data-start=\"3865\" data-end=\"3898\">family geneticist consultation<\/p>\n<\/li>\n<li class=\"\" data-start=\"3899\" data-end=\"3947\">\n<p class=\"\" data-start=\"3901\" data-end=\"3947\">prenatal or preimplantation diagnosis<\/p>\n<\/li>\n<li class=\"\" data-start=\"3948\" data-end=\"3979\">\n<p class=\"\" data-start=\"3950\" data-end=\"3979\">genetic testing of the partner<\/p>\n<\/li>\n<\/ul>\n<p class=\"\" data-start=\"3981\" data-end=\"4144\">Karyotyping is not just a \u00abcheck-box analysis.\u00bb It <strong data-start=\"4036\" data-end=\"4071\">medical map of chromosome structure<\/strong>, which can provide answers to questions that have remained unexplained for years.<\/p>","protected":false},"excerpt":{"rendered":"<p>\u00abWhy can\u2019t we have a baby?\u00bb \u2013 this is often the beginning of the path to karyotyping. Couples who have been trying to get pregnant for a long time,<\/p>","protected":false},"author":627,"featured_media":9520,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-9519","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.5 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>\u041a\u0430\u0440\u0456\u043e\u0442\u0438\u043f\u0443\u0432\u0430\u043d\u043d\u044f \u2013 \u0449\u043e \u043f\u043e\u043a\u0430\u0437\u0443\u0454 \u0430\u043d\u0430\u043b\u0456\u0437 \u0445\u0440\u043e\u043c\u043e\u0441\u043e\u043c<\/title>\n<meta name=\"description\" content=\"\u0414\u043b\u044f \u0447\u043e\u0433\u043e \u043f\u0440\u043e\u0432\u043e\u0434\u0438\u0442\u044c\u0441\u044f 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Specialist in clinical laboratory diagnostics, clinical biochemistry and immunology. Has over 45 years of practical experience in medicine and laboratory diagnostics. Since 2007, he has been the founder and head of Medi Lab Plus LLC. She began her professional career as a nurse, later worked as an assistant epidemiologist and laboratory assistant. In 1987\u20132007, she headed a centralized serological laboratory. Education and specializations \u2022 1979 \u2014 Khmelnytskyi Basic Medical School, paramedic \u2022 1986 \u2014 Odessa State University named after I.I. Mechnikov, biologist \u2022 2001 \u2014 clinical laboratory diagnostics, NMAPE named after P.L. Shupyk \u2022 2008 \u2014 PCR diagnostics of infectious diseases, Institute of Epidemiology named after L.V. Gromashevsky \u2022 2010, 2015, 2021 \u2014 organization and management of healthcare \u2022 2017 \u2014 clinical laboratory diagnostics, Ukrainian Military Medical Academy \u2022 2017 \u2014 clinical biochemistry, Ukrainian Military Medical Academy \u2022 2018 \u2014 clinical immunology, Ukrainian Military Medical Academy \u2022 2025 \u2014 topical issues of modern medicine and pharmacy, Kharkiv Polytechnic Institute Work experience \u2022 1979\u20131982 \u2014 hospital nurse \u2022 1982\u20131986 \u2014 assistant epidemiologist \u2022 1986\u20131987 \u2014 laboratory assistant \u2022 1987\u20132007 \u2014 head of a centralized serological laboratory \u2022 Since 2007 \u2014 director of Medi Lab Plus LLC Key competencies Organization and management of medical laboratories, implementation of modern methods of laboratory diagnostics (PCR, immunological and biochemical studies), quality control of laboratory processes in accordance with state and international standards.","url":"https:\/\/medilab.km.ua\/en\/author\/medilab-an\/"}]}},"_links":{"self":[{"href":"https:\/\/medilab.km.ua\/en\/wp-json\/wp\/v2\/posts\/9519","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/medilab.km.ua\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/medilab.km.ua\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/medilab.km.ua\/en\/wp-json\/wp\/v2\/users\/627"}],"replies":[{"embeddable":true,"href":"https:\/\/medilab.km.ua\/en\/wp-json\/wp\/v2\/comments?post=9519"}],"version-history":[{"count":0,"href":"https:\/\/medilab.km.ua\/en\/wp-json\/wp\/v2\/posts\/9519\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/medilab.km.ua\/en\/wp-json\/wp\/v2\/media\/9520"}],"wp:attachment":[{"href":"https:\/\/medilab.km.ua\/en\/wp-json\/wp\/v2\/media?parent=9519"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/medilab.km.ua\/en\/wp-json\/wp\/v2\/categories?post=9519"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/medilab.km.ua\/en\/wp-json\/wp\/v2\/tags?post=9519"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}