{"id":9041,"date":"2022-12-23T08:10:00","date_gmt":"2022-12-23T07:10:00","guid":{"rendered":"https:\/\/adntro.com\/?p=9041"},"modified":"2025-11-10T09:32:48","modified_gmt":"2025-11-10T08:32:48","slug":"aneuploidias","status":"publish","type":"post","link":"https:\/\/adntro.com\/en\/blog\/salud\/aneuploidies\/","title":{"rendered":"What are aneuploidies?"},"content":{"rendered":"<div data-elementor-type=\"wp-post\" data-elementor-id=\"9041\" class=\"elementor elementor-9041\" data-elementor-post-type=\"post\">\n\t\t\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-465b3c37 elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"465b3c37\" data-element_type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-top-column elementor-element elementor-element-6e399709\" data-id=\"6e399709\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-46b0b8dc elementor-widget elementor-widget-text-editor\" data-id=\"46b0b8dc\" data-element_type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t<style>\/*! elementor - v3.20.0 - 26-03-2024 *\/\n.elementor-widget-text-editor.elementor-drop-cap-view-stacked .elementor-drop-cap{background-color:#69727d;color:#fff}.elementor-widget-text-editor.elementor-drop-cap-view-framed .elementor-drop-cap{color:#69727d;border:3px solid;background-color:transparent}.elementor-widget-text-editor:not(.elementor-drop-cap-view-default) .elementor-drop-cap{margin-top:8px}.elementor-widget-text-editor:not(.elementor-drop-cap-view-default) .elementor-drop-cap-letter{width:1em;height:1em}.elementor-widget-text-editor .elementor-drop-cap{float:left;text-align:center;line-height:1;font-size:50px}.elementor-widget-text-editor .elementor-drop-cap-letter{display:inline-block}<\/style>\t\t\t\t<p><span style=\"font-weight: 400;\">The <\/span><b>genome<\/b><span style=\"font-weight: 400;\"> is the set of genetic instructions found in a cell that give rise to biological life. In the case of humans, such instructions are stored in <\/span><b>23 pairs of chromosomes <\/b><span style=\"font-weight: 400;\">(23 maternal chromosomes and 23 paternal chromosomes), with chromosome 23 being different depending on the gender of the individual (XX in females and XY in males).<\/span><\/p>\n<p><!-- \/wp:paragraph --><!-- wp:image {\"align\":\"center\",\"id\":9042,\"width\":450,\"height\":188,\"sizeSlug\":\"full\",\"linkDestination\":\"none\"} --><\/p>\n<figure class=\"wp-block-image aligncenter size-full is-resized\"><img fetchpriority=\"high\" decoding=\"async\" class=\"wp-image-9042\" src=\"https:\/\/adntro.com\/wp-content\/uploads\/2022\/10\/cariotipo.png\" alt=\"\" width=\"450\" height=\"188\" srcset=\"https:\/\/adntro.com\/wp-content\/uploads\/2022\/10\/cariotipo.png 347w, https:\/\/adntro.com\/wp-content\/uploads\/2022\/10\/cariotipo-300x125.png 300w, https:\/\/adntro.com\/wp-content\/uploads\/2022\/10\/cariotipo-18x8.png 18w\" sizes=\"(max-width: 450px) 100vw, 450px\" \/><\/figure>\n<p><!-- \/wp:image --><!-- wp:paragraph --><\/p>\n<p><span style=\"font-weight: 400;\">The image of these 23 pairs of chromosomes constitutes the human (female in this case) karyotype. Any change that alters the chromosomal endowment of the person, known as <\/span><b>aneuploidy<\/b><span style=\"font-weight: 400;\"> or chromosomal abnormality, will produce changes in the karyotype and trigger syndromes. Among these possible changes that the karyotype may undergo, we find monosomies and trisomies.<\/span><\/p>\n<p><!-- \/wp:paragraph --><!-- wp:heading --><\/p>\n<h2><strong>What are aneuploidies?<\/strong><\/h2>\n<p><!-- \/wp:heading --><!-- wp:paragraph --><\/p>\n<p class=\" translation-block\">Aneuploidy refers to the situation in which <strong>one or more chromosomes are missing or have extra copies beyond the usual number<\/strong>. As each chromosome contains hundreds of genes, the addition or loss of a single chromosome alters the existing balance in the cells and, in most cases, is not compatible with life.<\/p>\n<p><strong><span style=\"font-weight: 400;\">\u00a0<\/span><\/strong><\/p>\n<p><!-- \/wp:paragraph --><!-- wp:paragraph --><\/p>\n<p class=\" translation-block\">Most chromosomal abnormalities occur during sperm and egg generation. They occur because <b>chromosomes become unbalanced during the process in which gametes are generated<\/b> (process called <b>meiosis<\/b>). These abnormal gametes are usually eliminated during spermatogenesis or oogenesis. However, some of these abnormalities <b>can also occur during the beginning of embryo division<\/b>, affecting the developing embryo.<\/p>\n<p><!-- \/wp:paragraph --><!-- wp:heading --><\/p>\n<h2><strong>Types of aneuploidies<\/strong><\/h2>\n<p><!-- \/wp:heading --><!-- wp:paragraph --><\/p>\n<p><span style=\"font-weight: 400;\">In humans, the most common types of aneuploidy are trisomies and monosomies.<\/span><\/p>\n<h3><strong>Trisomies<\/strong><\/h3>\n<p><!-- \/wp:paragraph --><!-- wp:paragraph --><\/p>\n<p><span style=\"font-weight: 400;\">The <\/span><a href=\"https:\/\/adntro.com\/en\/blog\/salud\/trisomies\/\"><b>trisomies<\/b><\/a><span style=\"font-weight: 400;\"> are the result of having an extra chromosome. About 0.3% of births have this genetic disorder. Some well-known trisomies include:<\/span><\/p>\n<ul>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><b>Down Syndrome<\/b><span style=\"font-weight: 400;\"> (Trisomy 21)<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><b>Edwards syndrome<\/b><span style=\"font-weight: 400;\"> (Trisomy 18)<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><b>Patau's syndrome<\/b> (Trisomy 13)<\/li>\n<\/ul>\n<p><!-- \/wp:paragraph --><!-- wp:heading {\"level\":3} --><\/p>\n<h3><strong>Monosomies<\/strong><\/h3>\n<p><span style=\"font-weight: 400;\">The <\/span><b>monosomies<\/b><span style=\"font-weight: 400;\"> are the complete absence of one of the chromosomes found in humans. The most common monosomy is the deletion of the entire X chromosome (monosomy XO), which results in the <\/span><b>Turner syndrome<\/b><span style=\"font-weight: 400;\">.<\/span><\/p>\n<h4>Turner syndrome<\/h4>\n<p><!-- \/wp:heading --><!-- wp:image {\"align\":\"center\",\"id\":9043,\"width\":416,\"height\":313,\"sizeSlug\":\"full\",\"linkDestination\":\"none\"} --><\/p>\n<figure class=\"wp-block-image aligncenter size-full is-resized\"><img decoding=\"async\" class=\"wp-image-9043\" src=\"https:\/\/adntro.com\/wp-content\/uploads\/2022\/10\/cariotipo-sindrome-turner.jpg\" alt=\"\" width=\"416\" height=\"313\" srcset=\"https:\/\/adntro.com\/wp-content\/uploads\/2022\/10\/cariotipo-sindrome-turner.jpg 800w, https:\/\/adntro.com\/wp-content\/uploads\/2022\/10\/cariotipo-sindrome-turner-300x225.jpg 300w, https:\/\/adntro.com\/wp-content\/uploads\/2022\/10\/cariotipo-sindrome-turner-768x576.jpg 768w, https:\/\/adntro.com\/wp-content\/uploads\/2022\/10\/cariotipo-sindrome-turner-16x12.jpg 16w\" sizes=\"(max-width: 416px) 100vw, 416px\" \/><\/figure>\n<p><!-- \/wp:image --><!-- wp:paragraph --><\/p>\n<p class=\" translation-block\"><span style=\"font-weight: 400\"><b>Turner <\/span>Syndrome<\/b><span style=\"font-weight: 400\"> affects women (approximately 1 in 2,500). It is characterized by <\/span><b>the absence of one X chromosome and affects the development of girls.<\/b><span style=\"font-weight: 400\"> Individuals with this monosomy have the most characteristic features of <\/span><b>short stature and infertility.<\/b><span style=\"font-weight: 400\"> Women with this syndrome often present with a <\/span><b>short neck, ears positioned lower than normal, and swollen hands and feet.<\/b><\/p>\n<p><b>\u00a0<\/b><\/p>\n<p><span style=\"font-weight: 400;\">They may also have associated health problems such as <\/span><b>arterial hypertension, <a href=\"https:\/\/adntro.com\/en\/blog\/salud\/types-diabetes\/\">diabetes<\/a>kidney problems, osteoporosis, cataracts and thyroid problems.<\/b><\/p>\n<p><b>\u00a0<\/b><\/p>\n<p><!-- \/wp:paragraph --><!-- wp:paragraph --><\/p>\n<h4><b>Health Impact of Aneuploidies <\/b><\/h4>\n<p><!-- \/wp:paragraph --><!-- wp:paragraph --><\/p>\n<p><span style=\"font-weight: 400;\">Aneuploidies have a significant impact on health because of the<\/span><b> alteration in the number of chromosomes<\/b><span style=\"font-weight: 400;\">. The loss or gain of genetic material affects the development and function of cells, which can result in a wide range of health problems, from developmental delays and intellectual disabilities to physical and metabolic problems.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">\u00a0<\/span><\/p>\n<p><!-- \/wp:paragraph --><!-- wp:paragraph --><\/p>\n<h2><b>Diagnosis and Treatment<\/b><\/h2>\n<p><b>Diagnosis of aneuploidies is usually performed by prenatal tests such as amniocentesis or chorionic villus biopsy.<\/b><span style=\"font-weight: 400;\">which allow analysis of the karyotype of the fetus. In some cases, noninvasive techniques can be used, such as the <a href=\"https:\/\/adntro.com\/en\/\">DNA analysis<\/a> free fetal blood in maternal blood.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\">The <\/span><b>treatment<\/b><span style=\"font-weight: 400;\"> and management of aneuploidies varies depending on the type and severity of the disorder. In many cases, management includes<\/span><b> supportive therapies to address specific symptoms and complications,<\/b><span style=\"font-weight: 400;\">such as developmental therapies, medical treatments for associated health problems, and in some cases, surgical interventions.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Understand the <\/span><b>aneuploidies<\/b><span style=\"font-weight: 400;\"> and their impact on health is crucial for the proper diagnosis and management of these disorders. Through advances in genetic medicine and prenatal diagnosis, it is possible to identify and address aneuploidies more effectively, thus improving the quality of life of affected individuals.\u00a0<\/span><\/p>\n<p><!-- \/wp:paragraph --><\/p>\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<\/div>","protected":false},"excerpt":{"rendered":"<p>The genome is the set of genetic instructions found in a cell that give rise to biological life. In the case of humans, these instructions are stored in 23 pairs of chromosomes (23 maternal chromosomes and 23 paternal chromosomes), with the 23rd chromosome being different depending on the gender of the individual (XX [...]<\/p>","protected":false},"author":8,"featured_media":9042,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[430],"tags":[15,42,414,263,18,412,413,416,266,267,415,264],"class_list":["post-9041","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-salud","tag-adn","tag-adntro","tag-anomalia-cromosomica","tag-cariotipo","tag-genetica","tag-meiosis","tag-monosomias","tag-sindorme-de-down","tag-sindrome-de-edwards","tag-sindrome-de-patau","tag-sindrome-de-turner","tag-trisomias"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v22.0 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>\u00bfQu\u00e9 son las aneuploid\u00edas?<\/title>\n<meta name=\"description\" content=\"\u00bfHas o\u00eddo hablar sobre las aneuploid\u00edas? 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Biotecn\u00f3loga por la Universidad Francisco de Vitoria, donde recibi\u00f3 dos becas de expediente acad\u00e9mico brillante. Estuvo trabajando en un proyecto de investigaci\u00f3n sobre la asimetr\u00eda izquierda-derecha en Newcastle, siendo premiada en la Conferencia del Centro de Investigaci\u00f3n Cardiovascular Trainees Meeting como el mejor p\u00f3ster (2018). Complet\u00f3 un m\u00e1ster en Biolog\u00eda Computacional en la Universidad Polit\u00e9cnica de Madrid. All\u00ed estudi\u00f3 las redes de interacci\u00f3n metab\u00f3lica en el microbioma de pacientes con Enfermedad de Chron y Colitis Ulcerosa en el centro de investigaci\u00f3n CBGP, centro de Excelencia Severo Ochoa (2020). 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