{"id":9519,"date":"2024-08-02T16:15:19","date_gmt":"2024-08-02T13:15:19","guid":{"rendered":"https:\/\/medilab.km.ua\/?p=9519"},"modified":"2026-10-03T10:52:41","modified_gmt":"2026-10-03T10:52:41","slug":"karyotyping-as-chromosome-analysis-helps-to-understand-health","status":"publish","type":"post","link":"https:\/\/medilab.km.ua\/en\/kariotypuvannya-yak-analiz-hromosom-dopomagaye-zrozumity-zdorov-ya\/","title":{"rendered":"Karyotyping: How chromosome analysis helps understand health"},"content":{"rendered":"<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 <a href=\"https:\/\/medilab.km.ua\/en\/den-dnk\/\">structure of chromosomes<\/a> 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\/themes\/woodmart\/images\/lazy.svg\" data-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=\"\" data-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<div class=\"table-scroll\"><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><\/div>\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 programs <a href=\"https:\/\/medilab.km.ua\/en\/diagnosis-of-chromosomal-disorders-current-approaches-and-possibilities\/\">IVF \u2013 to select embryos without chromosomal defects<\/a> (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":"","_flow_reviewer_id":0,"_flow_review_status":""},"categories":[233],"tags":[],"class_list":["post-9519","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-rozshyfrovka-analiziv-ta-pidgotovka"],"_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}]}}