{"id":4027,"date":"2024-08-29T09:58:36","date_gmt":"2024-08-29T06:58:36","guid":{"rendered":"https:\/\/docdrmuratkaya.com.tr\/?p=4027"},"modified":"2026-04-03T16:48:12","modified_gmt":"2026-04-03T13:48:12","slug":"down-sendromu-nedir","status":"publish","type":"post","link":"https:\/\/docdrmuratkaya.com.tr\/ru\/down-sendromu-nedir\/","title":{"rendered":"Down Sendromu Nedir?"},"content":{"rendered":"<p data-block-id=\"caef79e4-8d38-4ab0-9ec4-5a542deab612\" data-pm-slice=\"1 1 []\">Genetik bir durumdur ve 21. kromozom \u00e7iftinin fazlal\u0131\u011f\u0131 nedeniyle ortaya \u00e7\u0131kar. Bu fazlal\u0131k, zihinsel ve fiziksel geli\u015fim \u00fczerinde etkili olur. <strong>\u0441\u0438\u043d\u0434\u0440\u043e\u043c \u0434\u0430\u0443\u043d\u0430 <\/strong>ya\u015fayan bireylerde tipik y\u00fcz hatlar\u0131, kas gev\u015fekli\u011fi ve \u00f6\u011frenme g\u00fc\u00e7l\u00fckleri g\u00f6r\u00fclebilir. Kalp ve sindirim sistemi sorunlar\u0131 da yayg\u0131nd\u0131r. Erken m\u00fcdahale ve \u00f6zel e\u011fitimle bu bireylerin ya\u015fam kalitesi art\u0131r\u0131labilir.<\/p>\n<h2 data-block-id=\"a2fa98a4-5442-461c-bea9-de9b9691c77f\">Down Sendromu Belirtileri Nelerdir?<\/h2>\n<p data-block-id=\"0e4db381-24a3-40bd-84dc-406fa3a09518\"><img decoding=\"async\" class=\"wp-image-4031 alignright\" src=\"https:\/\/docdrmuratkaya.com.tr\/wp-content\/uploads\/2024\/08\/down-sendromu-nedir-1.jpg\" alt=\"Down Sendromu Nedir?\" width=\"263\" height=\"179\" title=\"\" srcset=\"https:\/\/docdrmuratkaya.com.tr\/wp-content\/uploads\/2024\/08\/down-sendromu-nedir-1.jpg 1300w, https:\/\/docdrmuratkaya.com.tr\/wp-content\/uploads\/2024\/08\/down-sendromu-nedir-1-18x12.jpg 18w\" sizes=\"(max-width: 263px) 100vw, 263px\" \/>Burun k\u00f6k\u00fc bas\u0131k ve y\u00fczde genel bir yass\u0131 g\u00f6r\u00fcn\u00fcm vard\u0131r. G\u00f6zler yukar\u0131 do\u011fru \u00e7ekik, badem \u015fekillidir. G\u00f6zlerde epikantal k\u0131vr\u0131m (g\u00f6z i\u00e7 k\u00f6\u015felerinde deri k\u0131vr\u0131m\u0131) olabilir. Burun k\u00f6k\u00fc bas\u0131k, burun k\u0131sa ve geni\u015f olabilir. <strong>\u0441\u0438\u043d\u0434\u0440\u043e\u043c \u0434\u0430\u0443\u043d\u0430<\/strong> olan bireylerde a\u011f\u0131z k\u00fc\u00e7\u00fck olabilir ve dil genellikle d\u0131\u015far\u0131da durur. Boyun k\u0131sa ve geni\u015f bir g\u00f6r\u00fcn\u00fcme sahip olabilir. Avu\u00e7 i\u00e7indeki \u00e7izgiler normalden farkl\u0131 olarak tek bir \u00e7izgi \u015feklinde olabilir.<\/p>\n<p data-block-id=\"0e4db381-24a3-40bd-84dc-406fa3a09518\">Kulaklar normalden daha k\u00fc\u00e7\u00fck ve d\u00fc\u015f\u00fck yerle\u015fimli olabilir. Bebeklik d\u00f6neminde kaslar zay\u0131f olabilir, bu da hareket ve motor geli\u015fimi etkileyebilir. Eller ve parmaklar k\u0131sa ve kal\u0131n olabilir. Ayr\u0131ca ser\u00e7e parma\u011f\u0131 i\u00e7e do\u011fru k\u0131vr\u0131k olabilir. Zihinsel geli\u015fimde baz\u0131 gecikmeler olabilir. Bu da \u00f6\u011frenme ve dil geli\u015fimini etkileyebilir. Do\u011fu\u015ftan kalp anomalileri s\u0131k g\u00f6r\u00fclebilir. Genellikle ya\u015flar\u0131na g\u00f6re daha k\u0131sa boylu olabilirler. Bu belirtiler ki\u015fiden ki\u015fiye farkl\u0131l\u0131k g\u00f6sterebilir. Her <strong>\u0441\u0438\u043d\u0434\u0440\u043e\u043c \u0434\u0430\u0443\u043d\u0430 <\/strong>ya\u015fayan birey bu belirtilerin hepsini ta\u015f\u0131mayabilir.<\/p>\n<h3 data-block-id=\"2311ec38-9d59-4c34-a80a-601db8e2c0bb\">Down Sendromu Nas\u0131l Te\u015fhis Edilir?<\/h3>\n<p data-block-id=\"b609fdac-6dff-4e9b-9f20-3f251402ee33\">\u0130kili tarama testi gebeli\u011fin 11-14. haftalar\u0131nda yap\u0131l\u0131r. Bu test, annenin kan\u0131ndaki baz\u0131 hormonlar\u0131n seviyelerini ve ultrason ile \u00f6l\u00e7\u00fclen ense kal\u0131nl\u0131\u011f\u0131n\u0131 analiz eder.<strong> \u0441\u0438\u043d\u0434\u0440\u043e\u043c \u0434\u0430\u0443\u043d\u0430<\/strong> riski hakk\u0131nda bilgi verir. \u00dc\u00e7l\u00fc veya d\u00f6rtl\u00fc tarama testi, gebeli\u011fin 15-20. haftalar\u0131nda yap\u0131l\u0131r. Annenin kan\u0131ndaki farkl\u0131 hormon seviyelerini inceler ve risk hakk\u0131nda bilgi verir. Gebeli\u011fin 15-20. haftalar\u0131nda amniyotik s\u0131v\u0131dan \u00f6rnek al\u0131narak bebe\u011fin kromozomlar\u0131 incelenir. Kesin bir tan\u0131 sa\u011flar. Koryon villus biyopsisi (CVS), gebeli\u011fin 10-13. haftalar\u0131nda yap\u0131l\u0131r.<\/p>\n<p data-block-id=\"b609fdac-6dff-4e9b-9f20-3f251402ee33\">Bu testte plasenta dokusundan \u00f6rnek al\u0131n\u0131r ve kromozom analizi yap\u0131l\u0131r. Kordosentez, gebeli\u011fin ilerleyen haftalar\u0131nda (20. haftadan sonra) bebekten kan al\u0131narak yap\u0131lan bir testtir. Kromozom anomalileri bu testle de tespit edilebilir. Kromozom analizinde (Karyotip), bebe\u011fin kan \u00f6rne\u011fi al\u0131narak kromozom yap\u0131s\u0131 incelenir. Down sendromu tan\u0131s\u0131 bu y\u00f6ntemle kesinle\u015ftirilir. <strong>\u0441\u0438\u043d\u0434\u0440\u043e\u043c \u0434\u0430\u0443\u043d\u0430<\/strong> te\u015fhisi konulursa, aileye genetik dan\u0131\u015fmanl\u0131k verilir. Durum hakk\u0131nda bilgilendirilir. bebek i\u00e7in uygun tedavi ve destek planlar\u0131 olu\u015fturulur.<\/p>\n<h3 data-block-id=\"79bf5ab9-bc12-43c3-8f6d-721386e20109\">Down Sendromu Neden Olur?<\/h3>\n<p data-block-id=\"9f4f1cc3-9f17-49e9-a4a2-bca9c3631976\"><img decoding=\"async\" class=\"wp-image-4032 alignleft\" src=\"https:\/\/docdrmuratkaya.com.tr\/wp-content\/uploads\/2024\/08\/down-sendromu-nedir-2.jpg\" alt=\"Down Sendromu Nedir?\" width=\"231\" height=\"173\" title=\"\" srcset=\"https:\/\/docdrmuratkaya.com.tr\/wp-content\/uploads\/2024\/08\/down-sendromu-nedir-2.jpg 1024w, https:\/\/docdrmuratkaya.com.tr\/wp-content\/uploads\/2024\/08\/down-sendromu-nedir-2-16x12.jpg 16w\" sizes=\"(max-width: 231px) 100vw, 231px\" \/>En yayg\u0131n nedeni, h\u00fccre b\u00f6l\u00fcnmesi s\u0131ras\u0131nda 21. kromozomun fazladan bir kopyas\u0131n\u0131n olu\u015fmas\u0131d\u0131r. Bu, 21. kromozomun \u00fc\u00e7 kopyas\u0131na sahip olma durumudur (Trizomi 21). \u0130leri anne ya\u015f\u0131, <strong>\u0441\u0438\u043d\u0434\u0440\u043e\u043c \u0434\u0430\u0443\u043d\u0430<\/strong> riskini art\u0131ran fakt\u00f6rlerden biridir. \u00d6zellikle 35 ya\u015f ve \u00fczeri annelerde risk artmaktad\u0131r. Nadiren, kal\u0131tsal olabilir. Translokasyon ad\u0131 verilen bir genetik de\u011fi\u015fiklik sonucu, ebeveynden \u00e7ocuklar\u0131na aktar\u0131l\u0131r.<\/p>\n<p data-block-id=\"9f4f1cc3-9f17-49e9-a4a2-bca9c3631976\">D\u00f6llenmeden sonraki h\u00fccre b\u00f6l\u00fcnmesi s\u0131ras\u0131nda meydana gelen hatalar da yol a\u00e7abilir. Bu durum, h\u00fccrelerin b\u00f6l\u00fcnme s\u00fcrecinde genetik materyalin hatal\u0131 bir \u015fekilde da\u011f\u0131lmas\u0131yla ortaya \u00e7\u0131kar. Nadiren, ki\u015finin baz\u0131 h\u00fccrelerinde normal kromozom say\u0131s\u0131 (46) varken, di\u011fer h\u00fccrelerde 47 kromozom bulunur. Bu durum, mosaic <strong>\u0441\u0438\u043d\u0434\u0440\u043e\u043c \u0434\u0430\u0443\u043d\u0430 <\/strong>olarak bilinir. Farkl\u0131 h\u00fccrelerde farkl\u0131 genetik yap\u0131lar olu\u015fmas\u0131na neden olur.<\/p>\n<h3 data-block-id=\"59bfbcf1-f4b2-4ac3-b51c-51b69d199506\">Down Sendromu Tedavi Y\u00f6ntemleri Nelerdir?<\/h3>\n<p data-block-id=\"3150ff00-3c14-4a5e-acd4-3be63af2d126\">Bebe\u011fin geli\u015fimini desteklemek i\u00e7in fizyoterapi, dil terapisi ve i\u015fitme terapisi uygulan\u0131r. \u00d6zel e\u011fitim programlar\u0131 ile bireyin \u00f6\u011frenme kapasiteleri art\u0131r\u0131l\u0131r. Kas tonusunu art\u0131rmak ve motor becerilerini geli\u015ftirmek i\u00e7in uygulan\u0131r. Dil geli\u015fimini desteklemek ve ileti\u015fim becerilerini art\u0131rmak i\u00e7in kullan\u0131l\u0131r. Tiroid sorunlar\u0131 gibi e\u015flik eden sa\u011fl\u0131k problemleri i\u00e7in ila\u00e7lar kullan\u0131l\u0131r. Aile ve birey i\u00e7in psikolojik dan\u0131\u015fmanl\u0131k hizmetleri sunulur. Sa\u011fl\u0131kl\u0131 bir ya\u015fam i\u00e7in uygun beslenme programlar\u0131 uygulan\u0131r.<\/p>","protected":false},"excerpt":{"rendered":"<p>Genetik bir durumdur ve 21. kromozom \u00e7iftinin fazlal\u0131\u011f\u0131 nedeniyle ortaya \u00e7\u0131kar. Bu fazlal\u0131k, zihinsel ve fiziksel geli\u015fim \u00fczerinde etkili olur. Down sendromu ya\u015fayan bireylerde tipik y\u00fcz hatlar\u0131, kas gev\u015fekli\u011fi ve \u00f6\u011frenme g\u00fc\u00e7l\u00fckleri g\u00f6r\u00fclebilir. Kalp ve sindirim sistemi sorunlar\u0131 da yayg\u0131nd\u0131r. Erken m\u00fcdahale ve \u00f6zel e\u011fitimle bu bireylerin ya\u015fam kalitesi art\u0131r\u0131labilir. Down Sendromu Belirtileri Nelerdir? Burun [&hellip;]<\/p>","protected":false},"author":1,"featured_media":4030,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-4027","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-genel"],"_links":{"self":[{"href":"https:\/\/docdrmuratkaya.com.tr\/ru\/wp-json\/wp\/v2\/posts\/4027","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/docdrmuratkaya.com.tr\/ru\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/docdrmuratkaya.com.tr\/ru\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/docdrmuratkaya.com.tr\/ru\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/docdrmuratkaya.com.tr\/ru\/wp-json\/wp\/v2\/comments?post=4027"}],"version-history":[{"count":1,"href":"https:\/\/docdrmuratkaya.com.tr\/ru\/wp-json\/wp\/v2\/posts\/4027\/revisions"}],"predecessor-version":[{"id":5580,"href":"https:\/\/docdrmuratkaya.com.tr\/ru\/wp-json\/wp\/v2\/posts\/4027\/revisions\/5580"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/docdrmuratkaya.com.tr\/ru\/wp-json\/wp\/v2\/media\/4030"}],"wp:attachment":[{"href":"https:\/\/docdrmuratkaya.com.tr\/ru\/wp-json\/wp\/v2\/media?parent=4027"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/docdrmuratkaya.com.tr\/ru\/wp-json\/wp\/v2\/categories?post=4027"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/docdrmuratkaya.com.tr\/ru\/wp-json\/wp\/v2\/tags?post=4027"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}