{"id":10834,"date":"2017-01-12T15:13:19","date_gmt":"2017-01-12T12:13:19","guid":{"rendered":"https:\/\/www.synevo.ro\/informatii-medicale\/utilitatea-cariotipului-molecular-acgh-in-diagnosticul-genetic-al-pacientilor-cu-cariotip-constitutional-normal-si-modificari-genomice-neechilibrate-corelate-cu-afectare-fenotipica-specifica\/"},"modified":"2021-01-20T14:39:23","modified_gmt":"2021-01-20T12:39:23","slug":"utilitatea-cariotipului-molecular-acgh-in-diagnosticul-genetic-al-pacientilor-cu-cariotip-constitutional-normal-si-modificari-genomice-neechilibrate-corelate-cu-afectare-fenotipica-specifica","status":"publish","type":"synevo_medical","link":"https:\/\/old.synevo.md\/ru\/informatii-medicale\/utilitatea-cariotipului-molecular-acgh-in-diagnosticul-genetic-al-pacientilor-cu-cariotip-constitutional-normal-si-modificari-genomice-neechilibrate-corelate-cu-afectare-fenotipica-specifica\/","title":{"rendered":"Utilitatea cariotipului molecular (acgh) \u00een diagnosticul genetic al pacien\u0163ilor cu cariotip constitu\u0163ional normal \u015fi modific\u0103ri genomice neechilibrate corelate cu afectare fenotipic\u0103 specific\u0103"},"content":{"rendered":"<h2 class=\"has-text-color wp-block-heading\" style=\"color:#00539f\">Cariotip molecular<\/h2><p><strong>Tehnica aCGH (Array Comparative Genomic Hybridization, cariotipul molecular)<\/strong> a devenit una dintre cele mai importante metode diagnostice pentru identificarea anomaliilor genomice neechilibrate asociate cu retardul mental, \u00eent\u00e2rzierea global\u0103 de dezvoltare, epilepsie, autism, sindroame neurologice, malforma\u021bii congenitale.<\/p><div class=\"container synevo-content-box title-icon-inline box-text-center\">\n    <div class=\"sycbox-items\">\n        \n                <div class=\"sycbox-item\">\n            <div class=\"sycbox-head\">\n                <div class=\"sycbox-image\">\n                                             <img decoding=\"async\" src=\"https:\/\/old.synevo.md\/wp-content\/themes\/synevo-sage\/resources\/assets\/images\/icons\/icon-health-magnifier.svg\" alt=\"-\">\n                                    <\/div>\n                <div class=\"sycbox-title\">Cariotip molecular<\/div>\n            <\/div>\n            <div class=\"sycbox-description\"><p>Utilitatea cariotipului molecular poate fi observat\u0103 \u00een special \u00een cazul pacien\u021bilor nediagnostica\u021bi clinic sau \u00een urma cariotipului constitu\u021bional clasic \u0219i care au manifest\u0103ri fenotipice dintre cele mai sus men\u021bionate.<\/p>\n<\/div>\n            \n                    <\/div>\n                \n                \n    <\/div>\n<\/div><h2 class=\"has-text-color wp-block-heading\" style=\"color:#00539f\">Material \u0219i metod\u0103<\/h2><p>Lotul de studiu a cuprins 8 copii cu v\u00e2rste de peste 1 an. Modific\u0103rile fenotipice observate \u0219i indica\u021biile clinice de testare (diagnosticul clinic prezumtiv) pentru ace\u0219ti pacien\u021bi au fost: encefalopatie, hipotonie, \u00eent\u00e2rziere de dezvoltare psihomotorie, diferite forme de epilepsie, microcefalie, retard mental.<br><\/p><p>Cariotipul constitu\u021bional a fost efectuat la to\u021bi cei 8 pacien\u021bi, anterior efectu\u0103rii analizei <strong>aCGH<\/strong>, cu rezultat normal (cariotip normal). <a href=\"https:\/\/www.synevo.md\/shop\/cariotip-molecular-hibridizarea-genomica-comparativa\/\" class=\"rank-math-link\" rel=\"nofollow noopener\" target=\"_blank\"><strong>Cariotipul molecular (aCGH) <\/strong><\/a>a reprezentat urm\u0103toarea etap\u0103 diagnostic\u0103 \u00een evaluarea pacien\u021bilor.<\/p><div class=\"wp-block-columns is-layout-flex wp-container-core-columns-is-layout-1 wp-block-columns-is-layout-flex\"><div class=\"wp-block-column is-vertically-aligned-center is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:33.33%\"><p><strong>Test disponibil \u00een laboratoarele Synevo:<\/strong><\/p><\/div>\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:66.66%\"><div class=\"synevo-shop-products\">\r\n    <div class=\"sysprod\">\r\n        \r\n        <div class=\"sysprod-products\">\r\n                            <div class=\"sysprod-product\">\r\n                    <a class=\"sysprod-product-title\" href=\"https:\/\/old.synevo.md\/ru\/shop\/cariotip-molecular-hibridizarea-genomica-comparativa\/\">Cariotip molecular (Hibridizarea genomic\u0103 comparativ\u0103)<\/a>\r\n                    <div class=\"sysprod-product-price\">\r\n                        <span>Pre\u021b:<\/span>\r\n                        <span>12000.00 lei<\/span>\r\n                    <\/div>\r\n                                            <div class=\"sysprod-product-addcart\">\r\n                            <a\r\n                                href=\"?add-to-cart=11868\"\r\n                                data-quantity=\"1\"\r\n                                class=\"addToCart button product_type_simple add_to_cart_button ajax_add_to_cart \"\r\n                                data-product_id=\"11868\"\r\n                                data-product_sku=\"CITOGEN10\"\r\n                                rel=\"nofollow\"\r\n                            ><div><\/div><\/a>\r\n                        <\/div>\r\n                                    <\/div>\r\n                    <\/div>\r\n        \r\n    <\/div>\r\n<\/div>\r\n\r\n<style>\r\n.synevo-shop-products {\r\n    padding: 24px 0;\r\n    margin: 24px 0;\r\n    border-radius: 10px;\r\n    background: #F6F7F9;\r\n}\r\n.synevo-shop-products .sysprod-product {\r\n    position: relative;\r\n    margin: 0 24px;\r\n    margin-bottom: 24px;\r\n    border-radius: 10px;\r\n    background: #fff;\r\n    display: flex;\r\n    flex-direction: row;\r\n    align-items: center;\r\n}\r\n.synevo-shop-products .sysprod-product:last-child {\r\n    margin-bottom: 0;\r\n}\r\n.synevo-shop-products .sysprod-product-title {\r\n    flex-grow: 1;\r\n    padding: 15px;\r\n    margin-left: 14px;\r\n    font-family: Poppins,sans-serif;\r\n    font-weight: 600;\r\n    font-size: 16px;\r\n    color: #29263F;\r\n}\r\n.synevo-shop-products .sysprod-product-price {\r\n    flex-shrink: 0;\r\n    font-family: Poppins,sans-serif;\r\n    font-weight: 600;\r\n    font-size: 18px;\r\n    color: #FDB813;\r\n}\r\n.synevo-shop-products .sysprod-product-addcart {\r\n    flex-shrink: 0;\r\n    position: relative;\r\n    width: 38px;\r\n    height: 38px;\r\n    margin-left: 24px;\r\n    margin-right: 24px;\r\n}\r\n.synevo-shop-products .sysprod-product-addcart .button {\r\n    top: unset;\r\n    right: unset;\r\n}\r\n<\/style><\/div><\/div><h2 class=\"has-text-color wp-block-heading\" style=\"color:#00539f\">Rezultate<\/h2><p>Rezultatele analizei au eviden\u021biat variante patogene \u00een 4 dintre cele 8 cazuri, restul de 4 prezent\u00e2nd modific\u0103ri cu semnifica\u021bie patologic\u0103 benign\u0103 sau necunoscut\u0103:<br>\u2013 2 cazuri de microduplicatii cu semnificiatie patogena (care se coreleaz\u0103 cu diagnosticul clinic\/ prezumtiv) \u2013 1p36.32, 8p23.1<br>\u2013 2 cazuri de microdele\u021bii cu semnifica\u021bie patogen\u0103 (care explic\u0103 fenotipul pacientului): 14q31.1-q32.11, 1p36.33-p36.23.<\/p><p><strong>Pacient 15q11.1-11.2<\/strong><\/p><div class=\"wp-block-image\"><figure class=\"aligncenter\"><img decoding=\"async\" src=\"\/wp-content\/uploads\/2016\/09\/1-1.jpg\" alt=\"1\" class=\"wp-image-22246\"\/><\/figure><\/div><p><strong>Pacient del 1p36<\/strong><\/p><div class=\"wp-block-image\"><figure class=\"aligncenter\"><img decoding=\"async\" src=\"\/wp-content\/uploads\/2016\/09\/2-1.jpg\" alt=\"2\" class=\"wp-image-22247\"\/><\/figure><\/div><h2 class=\"has-text-color wp-block-heading\" style=\"color:#00539f\">Discu\u021bii<\/h2><p>Literatura de specialitate descrie sindroame cunoscute de microdele\u021bii \u0219i microduplica\u021bii \u00een regiunile observate \u00een urma analizei aCHH la cei 4 pacien\u021bi identifica\u021bi cu modific\u0103ri patologice. Tablourile clinice ale acestor sindroame se suprapun peste simptomatologia eviden\u021biata la ace\u0219ti pacien\u021bi.<\/p><div class=\"wp-block-columns is-layout-flex wp-container-core-columns-is-layout-2 wp-block-columns-is-layout-flex\"><div class=\"wp-block-column is-vertically-aligned-center is-layout-flow wp-block-column-is-layout-flow\"><figure class=\"wp-block-table\"><table><thead><tr><th><strong>Sindromul de microdeletie 1p36.33-36.23<\/strong><\/th><\/tr><\/thead><tbody><tr><td>Rezultat la unul dintre pacien\u021bi, cuprinde printre manifest\u0103rile clinice hipotonia muscular\u0103, retardul psihomotor sever \u0219i epilepsia, elemente fenotipice care au reprezentat indica\u021biile de testare ale pacientului.<\/td><\/tr><\/tbody><\/table><\/figure><\/div>\n\n<div class=\"wp-block-column is-vertically-aligned-center is-layout-flow wp-block-column-is-layout-flow\"><figure class=\"wp-block-table\"><table><thead><tr><th><strong><strong>Retardul mental sever <\/strong>\u0219i<strong> episoadele epileptice<\/strong><\/strong><\/th><\/tr><\/thead><tbody><tr><td>sunt at\u00e2t manifest\u0103ri fenotipice descrise \u00een sindromul de microdeletie 14q31, c\u00e2t \u0219i elemente clinice observate la un alt pacient.<\/td><\/tr><\/tbody><\/table><\/figure><\/div><\/div><p>Utilizarea pe scar\u0103 larg\u0103 a noilor tehnici de analiz\u0103 genetic\u0103 a condus la cre\u0219terea continu\u0103 a num\u0103rului de sindroame de microdele\u021bie\/ microduplica\u021bie. Identificarea acestora se bazeaz\u0103 pe tr\u0103s\u0103turi fenotipice recognoscibile clinic ce sunt asociate cu modific\u0103ri la nivelul unor regiuni cromozomiale comune.<\/p><h2 class=\"has-text-color wp-block-heading\" style=\"color:#00539f\">Concluzii<\/h2><p>\u00cen cazul pacien\u021bilor cu manifest\u0103ri clinice (\u00eent\u00e2rziere de dezvoltare, epilepsie, anomalii congenitale multiple, afec\u021biuni neurologice, afec\u021biuni din spectrul autist), dar cu rezultat normal \u00een urma cariotipului constitu\u021bional, este indicat\u0103 efectuarea <a href=\"https:\/\/www.synevo.md\/shop\/cariotip-molecular-hibridizarea-genomica-comparativa\/\" class=\"rank-math-link\" rel=\"nofollow noopener\" target=\"_blank\"><strong>analizei aCGH<\/strong><\/a> pentru identificarea cu acurate\u021be a unor modific\u0103ri genomice neechilibrate de mici dimensiuni, greu sau ne-detectabile prin intermediul tehnicilor clasice de citogenetic\u0103.<\/p><figure class=\"wp-block-table\"><table class=\"has-subtle-pale-blue-background-color has-background\"><tbody><tr><td><strong>Cariotipul molecular<\/strong> tinde s\u0103 devin\u0103 analiza genetic\u0103 de elec\u021bie \u00een cazul patologiilor mai sus men\u021bionate, numeroase<strong> sindroame de microdele\u021bie sau microduplica\u021bie identificabile prin aceasta tehnic\u0103 put\u00e2nd fi corelate cu aceste modific\u0103ri fenotipice.<\/strong><\/td><\/tr><\/tbody><\/table><\/figure><p>Utilitatea clinic\u0103 pentru pacien\u021bii care prezint\u0103 astfel de modific\u0103ri genomice este extrem de important\u0103, at\u00e2t \u00een diagnostic, c\u00e2t \u0219i \u00een managementul de lung\u0103 durat\u0103 \u0219i stabilirea riscului de recuren\u021b\u0103. Utilitatea \u0219tiin\u021bific\u0103 este de asemenea semnificativ\u0103, noi sindroame de microdele\u021bie sau microduplica\u021bie fiind recunoscute \u0219i delimitate clinic.<\/p>","protected":false},"featured_media":22631,"template":"","synevo_medical_category":[889],"class_list":["post-10834","synevo_medical","type-synevo_medical","status-publish","has-post-thumbnail","hentry","synevo_medical_category-articole"],"synevo_medical_metadata_title":["Utilitatea cariotipului molecular (acgh) \u00een diagnosticul genetic al pacien\u0163ilor cu cariotip constitu\u0163ional normal \u015fi modific\u0103ri genomice neechilibrate corelate cu afectare fenotipic\u0103 specific\u0103"],"synevo_medical_metadata_author":[",11289"],"_links":{"self":[{"href":"https:\/\/old.synevo.md\/ru\/wp-json\/wp\/v2\/synevo_medical\/10834","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/old.synevo.md\/ru\/wp-json\/wp\/v2\/synevo_medical"}],"about":[{"href":"https:\/\/old.synevo.md\/ru\/wp-json\/wp\/v2\/types\/synevo_medical"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/old.synevo.md\/ru\/wp-json\/wp\/v2\/media\/22631"}],"wp:attachment":[{"href":"https:\/\/old.synevo.md\/ru\/wp-json\/wp\/v2\/media?parent=10834"}],"wp:term":[{"taxonomy":"synevo_medical_category","embeddable":true,"href":"https:\/\/old.synevo.md\/ru\/wp-json\/wp\/v2\/synevo_medical_category?post=10834"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}