{"id":12100,"date":"2025-03-13T22:02:44","date_gmt":"2025-03-13T21:02:44","guid":{"rendered":"https:\/\/valintermed.com\/?p=12100"},"modified":"2025-03-13T22:02:44","modified_gmt":"2025-03-13T21:02:44","slug":"mozaichnaya-monosomiya-22","status":"publish","type":"post","link":"https:\/\/valintermed.com\/en\/medlibrary\/mosaic-monosomy-22\/","title":{"rendered":"Mosaic Monosomy 22"},"content":{"rendered":"<div class=\"fpm_start\"><\/div>\n<p>Mosaic monosomy 22 is a rare chromosomal disorder associated with the loss of one chromosome set (monosomy) in a specific part of chromosome 22. The disorder presents with a variety of symptoms, which may vary depending on the magnitude and location of the loss of genetic material. Characteristic clinical manifestations may include mental retardation, developmental disabilities, physical anomalies such as microcephaly, and various morphological anomalies of organs. Due to its rarity and the variety of symptoms, mosaic monosomy 22 can be difficult to diagnose and requires a multidisciplinary approach to patient management.<\/p>\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_85 counter-flat ez-toc-counter ez-toc-light-blue ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">Content<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewbox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 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href=\"https:\/\/valintermed.com\/en\/medlibrary\/mosaic-monosomy-22\/#%D0%98%D1%81%D1%82%D0%BE%D1%80%D0%B8%D1%8F_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F_%D0%B8_%D0%B8%D0%BD%D1%82%D0%B5%D1%80%D0%B5%D1%81%D0%BD%D1%8B%D0%B5_%D0%B8%D1%81%D1%82%D0%BE%D1%80%D0%B8%D1%87%D0%B5%D1%81%D0%BA%D0%B8%D0%B5_%D1%84%D0%B0%D0%BA%D1%82%D1%8B\" >History of the disease and interesting historical facts<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/mosaic-monosomy-22\/#%D0%AD%D0%BF%D0%B8%D0%B4%D0%B5%D0%BC%D0%B8%D0%BE%D0%BB%D0%BE%D0%B3%D0%B8%D1%8F\" >Epidemiology<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/mosaic-monosomy-22\/#%D0%93%D0%B5%D0%BD%D0%B5%D1%82%D0%B8%D1%87%D0%B5%D1%81%D0%BA%D0%B0%D1%8F_%D0%BF%D1%80%D0%B5%D0%B4%D1%80%D0%B0%D1%81%D0%BF%D0%BE%D0%BB%D0%BE%D0%B6%D0%B5%D0%BD%D0%BD%D0%BE%D1%81%D1%82%D1%8C_%D0%BA_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%BC%D1%83_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8E\" >Genetic predisposition to this disease<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/mosaic-monosomy-22\/#%D0%A4%D0%B0%D0%BA%D1%82%D0%BE%D1%80%D1%8B_%D1%80%D0%B8%D1%81%D0%BA%D0%B0_%D0%B2%D0%BE%D0%B7%D0%BD%D0%B8%D0%BA%D0%BD%D0%BE%D0%B2%D0%B5%D0%BD%D0%B8%D1%8F_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%B3%D0%BE_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\" >Risk factors for the development of this disease<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/mosaic-monosomy-22\/#%D0%94%D0%B8%D0%B0%D0%B3%D0%BD%D0%BE%D1%81%D1%82%D0%B8%D0%BA%D0%B0_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%B3%D0%BE_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\" >Diagnosis of this disease<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/mosaic-monosomy-22\/#%D0%9B%D0%B5%D1%87%D0%B5%D0%BD%D0%B8%D0%B5\" >Treatment<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/mosaic-monosomy-22\/#%D0%A1%D0%BF%D0%B8%D1%81%D0%BE%D0%BA_%D0%BB%D0%B5%D0%BA%D0%B0%D1%80%D1%81%D1%82%D0%B2_%D0%BF%D1%80%D0%B8%D0%BC%D0%B5%D0%BD%D1%8F%D0%B5%D0%BC%D1%8B%D1%85_%D0%B4%D0%BB%D1%8F_%D0%BB%D0%B5%D1%87%D0%B5%D0%BD%D0%B8%D1%8F_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%B3%D0%BE_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\" >List of medications used to treat this disease<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/mosaic-monosomy-22\/#%D0%9C%D0%BE%D0%BD%D0%B8%D1%82%D0%BE%D1%80%D0%B8%D0%BD%D0%B3_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\" >Disease monitoring<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/mosaic-monosomy-22\/#%D0%92%D0%BE%D0%B7%D1%80%D0%B0%D1%81%D1%82%D0%BD%D1%8B%D0%B5_%D0%BE%D1%81%D0%BE%D0%B1%D0%B5%D0%BD%D0%BD%D0%BE%D1%81%D1%82%D0%B8_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\" >Age-related features of the disease<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/mosaic-monosomy-22\/#%D0%92%D0%BE%D0%BF%D1%80%D0%BE%D1%81%D1%8B_%D0%B8_%D0%BE%D1%82%D0%B2%D0%B5%D1%82%D1%8B\" >Questions and Answers<\/a><\/li><\/ul><\/nav><\/div>\n<h2><span class=\"ez-toc-section\" id=\"%D0%98%D1%81%D1%82%D0%BE%D1%80%D0%B8%D1%8F_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F_%D0%B8_%D0%B8%D0%BD%D1%82%D0%B5%D1%80%D0%B5%D1%81%D0%BD%D1%8B%D0%B5_%D0%B8%D1%81%D1%82%D0%BE%D1%80%D0%B8%D1%87%D0%B5%D1%81%D0%BA%D0%B8%D0%B5_%D1%84%D0%B0%D0%BA%D1%82%D1%8B\"><\/span>History of the disease and interesting historical facts<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>The history of mosaic monosomy 22, like most chromosomal abnormalities, began with the development of cytogenetic research methods. The first cases of monosomy were described in the mid-20th century, when molecular genetics was just beginning to master the complex mechanisms of the human genome. One of the significant historical stages was the creation of methods for detecting chromosomal abnormalities using microscopy and the subsequent introduction of fluorescent in situ hybridization (FISH) into clinical practice. This allowed doctors and geneticists to identify specific mutations and abnormalities in chromosomes. An interesting fact is that mosaic monosomy 22 was recorded not only as a separate disease, but also as part of complex syndromes, such as 22q11.2 deletion syndrome, which emphasizes the importance of an integrated approach to the diagnosis and treatment of chromosomal disorders.<\/p>\n<h2><span class=\"ez-toc-section\" id=\"%D0%AD%D0%BF%D0%B8%D0%B4%D0%B5%D0%BC%D0%B8%D0%BE%D0%BB%D0%BE%D0%B3%D0%B8%D1%8F\"><\/span>Epidemiology<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Statistics on the occurrence of mosaic monosomy 22 indicate its extremely rare nature. According to various data, the incidence of this disease is approximately 1 case per 20,000-50,000 newborns. However, given the variety of clinical manifestations, data on the incidence may be underestimated due to the difficulty in diagnosing this pathology. Studies show that mosaic monosomy 22 can occur in both men and women equally, but there are gender differences in the severity of symptoms and health consequences. <\/p>\n<h2><span class=\"ez-toc-section\" id=\"%D0%93%D0%B5%D0%BD%D0%B5%D1%82%D0%B8%D1%87%D0%B5%D1%81%D0%BA%D0%B0%D1%8F_%D0%BF%D1%80%D0%B5%D0%B4%D1%80%D0%B0%D1%81%D0%BF%D0%BE%D0%BB%D0%BE%D0%B6%D0%B5%D0%BD%D0%BD%D0%BE%D1%81%D1%82%D1%8C_%D0%BA_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%BC%D1%83_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8E\"><\/span>Genetic predisposition to this disease<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Mosaic monosomy 22 is caused by the loss of part of chromosome 22, which can occur as a result of spontaneous mutations during meosis or mitosis. The most common changes are in the 22q11.2 region, which may contain genes such as TBX1, which play a key role in the development of various organs and systems. Mutations in these genes can lead to a variety of clinical manifestations. It is important to note that in most cases, mosaic monosomy 22 is spontaneous and not inherited, although in rare cases, familial predispositions may be observed.<\/p>\n<h2><span class=\"ez-toc-section\" id=\"%D0%A4%D0%B0%D0%BA%D1%82%D0%BE%D1%80%D1%8B_%D1%80%D0%B8%D1%81%D0%BA%D0%B0_%D0%B2%D0%BE%D0%B7%D0%BD%D0%B8%D0%BA%D0%BD%D0%BE%D0%B2%D0%B5%D0%BD%D0%B8%D1%8F_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%B3%D0%BE_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\"><\/span>Risk factors for the development of this disease<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Risk factors for mosaic monosomy 22 are multifactorial and include both genetic and environmental influences. The main factors include:<\/p>\n<ul>\n<li>Age of parents, especially mothers over 35 years old;<\/li>\n<li>The presence of chromosomal abnormalities in parents;<\/li>\n<li>Environmental factors such as exposure to toxic chemicals and radiation during pregnancy;<\/li>\n<li>Some infectious diseases in the mother during pregnancy.<\/li>\n<\/ul>\n<p>Each of these factors may play a role in the development of mosaic monosomy, but it is important to note that many cases occur without any obvious risk factors.<\/p>\n<h2><span class=\"ez-toc-section\" id=\"%D0%94%D0%B8%D0%B0%D0%B3%D0%BD%D0%BE%D1%81%D1%82%D0%B8%D0%BA%D0%B0_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%B3%D0%BE_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\"><\/span>Diagnosis of this disease<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Diagnosis of mosaic monosomy 22 involves a wide range of methods and approaches. The main symptoms of the disease can vary, but often include:<\/p>\n<ul>\n<li>Delayed motor and speech development;<\/li>\n<li>Behavioural and learning problems;<\/li>\n<li>Physical abnormalities such as skull and facial abnormalities;<\/li>\n<li>Cardiovascular disorders.<\/li>\n<\/ul>\n<p>Laboratory tests to confirm the diagnosis may include:<\/p>\n<ul>\n<li>Cytogenetic analysis - cardiotyping;<\/li>\n<li>Fluorescence in situ hybridization (FISH);<\/li>\n<li>Molecular genetic studies (e.g. new generation sequencing).<\/li>\n<\/ul>\n<p>Radiologic examinations are also often used to detect anatomical abnormalities. The differential diagnosis can be complex and requires consideration of other chromosomal abnormalities such as 22q11.2 deletion syndrome.<\/p><script data-noptimize=\"\" data-wpfc-render=\"false\">\nfpm_start( \"true\" );\n<\/script>\n\n<h2><span class=\"ez-toc-section\" id=\"%D0%9B%D0%B5%D1%87%D0%B5%D0%BD%D0%B8%D0%B5\"><\/span>Treatment<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Treatment for mosaic monosomy 22 is comprehensive and aimed at relieving symptoms and improving quality of life for patients. General treatment may include:<\/p>\n<ul>\n<li>Rehabilitation measures, such as speech therapy and physical therapy;<\/li>\n<li>Psychological support;<\/li>\n<li>Correction of behavioral and learning competencies.<\/li>\n<\/ul>\n<p>Pharmacological treatment may be prescribed to control associated conditions such as hyperactivity or epilepsy. Surgical treatment may be required to correct anatomical abnormalities, especially in the heart or skull. It is important that treatment is individualized and performed by a multidisciplinary team.<\/p>\n<h2><span class=\"ez-toc-section\" id=\"%D0%A1%D0%BF%D0%B8%D1%81%D0%BE%D0%BA_%D0%BB%D0%B5%D0%BA%D0%B0%D1%80%D1%81%D1%82%D0%B2_%D0%BF%D1%80%D0%B8%D0%BC%D0%B5%D0%BD%D1%8F%D0%B5%D0%BC%D1%8B%D1%85_%D0%B4%D0%BB%D1%8F_%D0%BB%D0%B5%D1%87%D0%B5%D0%BD%D0%B8%D1%8F_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%B3%D0%BE_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\"><\/span>List of medications used to treat this disease<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>The list of drugs prescribed for mosaic monosomy 22 may include:<\/p>\n<ul>\n<li>Antidepressants for the treatment of mental conditions;<\/li>\n<li>Anticonvulsants to control seizures;<\/li>\n<li>Concentration enhancing drugs such as methylphenidate;<\/li>\n<li>Medicines for the correction of digestive disorders and other somatic diseases.<\/li>\n<\/ul>\n<p>The name of specific drugs and their dosages should be determined by the attending physician based on individual indications.<\/p>\n<h2><span class=\"ez-toc-section\" id=\"%D0%9C%D0%BE%D0%BD%D0%B8%D1%82%D0%BE%D1%80%D0%B8%D0%BD%D0%B3_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\"><\/span>Disease monitoring<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Monitoring of mosaic monosomy 22 requires regular clinical observation and assessment of the patient&#039;s health status. Monitoring steps include:<\/p>\n<ul>\n<li>Regular visits to the doctor to assess development;<\/li>\n<li>Periodic examinations by related specialists (cardiologists, neuropsychologists, speech therapists and others);<\/li>\n<li>Assessment of quality of life and functional capabilities.<\/li>\n<\/ul>\n<p>The prognosis depends on the severity of the chromosomal disorder and the manifestations the patient experiences. Complications may include physical and mental abnormalities, which require constant attention from medical professionals and family support.<\/p>\n<h2><span class=\"ez-toc-section\" id=\"%D0%92%D0%BE%D0%B7%D1%80%D0%B0%D1%81%D1%82%D0%BD%D1%8B%D0%B5_%D0%BE%D1%81%D0%BE%D0%B1%D0%B5%D0%BD%D0%BD%D0%BE%D1%81%D1%82%D0%B8_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\"><\/span>Age-related features of the disease<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Mosaic monosomy 22 can present differently depending on the age of the patient. Newborns and infants often have severe developmental delays and physical abnormalities. Preschool and school-aged children may have learning and socialization problems. Adolescents may experience psychological difficulties related to a lack of normal interaction with peers. In adults, the prognosis can range from fully functioning to moderate to severe disability.<\/p>\n<h2><span class=\"ez-toc-section\" id=\"%D0%92%D0%BE%D0%BF%D1%80%D0%BE%D1%81%D1%8B_%D0%B8_%D0%BE%D1%82%D0%B2%D0%B5%D1%82%D1%8B\"><\/span>Questions and Answers<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<ul>\n<li><strong>What are the main symptoms of mosaic monosomy 22?<\/strong> Key symptoms may include developmental delays, physical abnormalities, behavioral changes, and learning difficulties.<\/li>\n<li><strong>Can mosaic monosomy 22 be inherited?<\/strong> In most cases, the disease occurs spontaneously and is not inherited, although rare hereditary cases may occur.<\/li>\n<li><strong>How is this disease diagnosed?<\/strong> Diagnosis typically involves cytogenetic testing, molecular studies, and clinical assessment of disease manifestations.<\/li>\n<li><strong>How is mosaic monosomy 22 treated?<\/strong> Treatment may include rehabilitation, drug therapy, behavior modification, and in some cases surgery.<\/li>\n<li><strong>What is the prognosis for patients with mosaic monosomy 22?<\/strong> The prognosis varies from case to case and depends on the severity of the syndrome and response to treatment.<\/li>\n<\/ul>\n<div class=\"fpm_end\"><\/div>","protected":false},"excerpt":{"rendered":"<p>Mosaic monosomy 22 is a rare chromosomal disorder involving the loss of one chromosome set (monosomy) in a specific part of chromosome 22.<\/p>","protected":false},"author":1,"featured_media":20888,"comment_status":"open","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[298],"tags":[],"class_list":["post-12100","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-medlibrary"],"_links":{"self":[{"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/posts\/12100","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/comments?post=12100"}],"version-history":[{"count":1,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/posts\/12100\/revisions"}],"predecessor-version":[{"id":15020,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/posts\/12100\/revisions\/15020"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/media\/20888"}],"wp:attachment":[{"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/media?parent=12100"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/categories?post=12100"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/tags?post=12100"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}