\u0130lk defa 1866 da \u0130ngiliz hekim John Langdon Down taraf\u0131ndan bir makalesinde ara\u015ft\u0131rma olarak yay\u0131nlanm\u0131\u015ft\u0131r.<\/strong><\/p>\nH\u00fccreye 22 anneden 22 babadan 44 kromozom gelir. Son \u00e7ift kromozom ise cinsiyet kromozomudur. Yani toplamda sa\u011fl\u0131kl\u0131 bir h\u00fccrede 23 \u00e7ift (46 kromozom) bulunur. Testis ve over mayoz b\u00f6l\u00fcnme ile h\u00fccre \u00e7o\u011fal\u0131r. Bazen bu b\u00f6l\u00fcnme s\u0131ras\u0131nda \u00e7ift kromozom ayr\u0131lamaz ve birle\u015fik olarak yoluna devam eder. Bu halde h\u00fccreye 22+24 kromozom gelir. Ayr\u0131lmama en \u00e7ok 21. kromozomda g\u00f6r\u00fcld\u00fc\u011f\u00fc i\u00e7in bu hastal\u0131k Trizomi 21 olarak da adland\u0131r\u0131l\u0131r. Down sendromunun %95 inin sebebi bu ayr\u0131lmayan kromozomdur. Sadece % 3 olarak g\u00f6r\u00fclen bir ba\u015fka sebebi ise; Translokasyon tipi olarak da adland\u0131r\u0131lan 14. veya 21. kromozomda bir k\u0131r\u0131k olu\u015ftu\u011fu i\u00e7in fazla kromozomun buraya yap\u0131\u015fmas\u0131d\u0131r. Yakla\u015f\u0131k 1000 do\u011fumdan 1 tanesinde rastlan\u0131r. En b\u00fcy\u00fck sebebi anne ya\u015f\u0131n\u0131n ileri olmas\u0131d\u0131r.<\/p>\n
Down Sendromu tan\u0131s\u0131 gebelik s\u0131ras\u0131nda veya do\u011fumda konur. Gebelik s\u0131ras\u0131nda annenin ya\u015f\u0131 ne olursa olsun tarama testlerinin yap\u0131lmas\u0131 gerekir. G\u00fcn\u00fcm\u00fczde geli\u015fen teknoloji ile beraber \u00fc\u00e7 boyutlu ultrason cihazlar\u0131n\u0131n devreye girmesiyle ilk \u015f\u00fcpheler bu g\u00f6r\u00fcnt\u00fclerle ortaya \u00e7\u0131kar. Ultrasonda doktorunuz bebe\u011finizde rahimde geli\u015fme gerili\u011fi, kalp, ba\u011f\u0131rsak, 12 parmak anomalisi, kol va bacaklarda k\u0131sal\u0131k, iki damarl\u0131 g\u00f6bek kordonu veya ense kal\u0131nl\u0131\u011f\u0131 te\u015fhis ederse Down Sendromundan \u015f\u00fcphelenilir. E\u011fer tarama testlerinde de bu \u015f\u00fcphe artarsa amniyosentez veya plasanta dan \u00f6rnek al\u0131nmas\u0131yla yap\u0131larak kesin tan\u0131 konur.<\/p>\n
G\u00fcn\u00fcm\u00fczde art\u0131k anne karn\u0131ndan al\u0131nan \u00f6rneklerde fetal DNA par\u00e7ac\u0131klar\u0131n\u0131 ay\u0131\u015ft\u0131rarak, kromozom anomalileri y\u00fcksek hassasiyet oran\u0131yla tespit edilebilmektedir. E\u011fer bu testte sonu\u00e7 belirsiz \u00e7\u0131karsa, sonucu kesinle\u015ftirmek i\u00e7in giri\u015fimsel testler gerekmektedir. G\u00fcn\u00fcm\u00fczde doktorunuz size gebeli\u011finizin sonland\u0131r\u0131lmas\u0131n\u0131 tavsiye edemez. Aile b\u00fct\u00fcnl\u00fc\u011f\u00fc gere\u011fi bu sizin e\u015finizle birlikte alaca\u011f\u0131n\u0131z bir karard\u0131r.<\/p>\n
Ancak \u015funu da belirtmek gerekir ki; her t\u00fcrl\u00fc test yap\u0131lm\u0131\u015f olsa da bazen hayat size s\u00fcrpriz yapar ve bebe\u011finiz hi\u00e7 bir belirti g\u00f6stermeden Down Sendromlu olarak do\u011fabilir. Bu bebeklerde; badem bi\u00e7imli g\u00f6z, palebral yar\u0131k, d\u00fc\u015f\u00fck kas tonusu, ayak ba\u015f parma\u011f\u0131 ile 2. parmak aras\u0131nda geni\u015f a\u00e7\u0131kl\u0131k, sark\u0131k dil, ufak ba\u015f, yass\u0131 kafa arkas\u0131, k\u0131sa ve geni\u015f ense, yass\u0131 burun k\u00f6k\u00fc, k\u0131sa ve tombul parmaklar, i\u00e7eri k\u0131vr\u0131k ser\u00e7e parmak ve en \u00f6nemlisi avu\u00e7 i\u00e7inde tek simian \u00e7izgisi g\u00f6r\u00fcl\u00fcr.<\/p>\n
V\u00fccut k\u0131sa ve t\u0131knazd\u0131r. \u00c7ocukluk d\u00f6nemlerinde solunum ve kalp hastal\u0131klar, tekrarlayan a\u011fr\u0131l\u0131 kulak enfeksiyonlar\u0131 ve uyku apnesi g\u00f6r\u00fclebilir.<\/p>\n
Bu farkl\u0131 bebekler boy ve kilo a\u00e7\u0131s\u0131ndan yava\u015f b\u00fcy\u00fcrler. Yava\u015f \u00f6\u011frenirler, problem \u00e7\u00f6zme ve karar vermede zorluk \u00e7ekerler. Ancak erken ba\u015flanan iyi bir e\u011fitimle b\u00fct\u00fcn bunlar\u0131n \u00fcstesinden gelinebilir. Erken m\u00fcdahale ile Down Sendromlu insanlar, topluma uyum sa\u011flayabilirler. \u00c7al\u0131\u015fabilirler, kendi kendilerine yetebilirler.<\/strong><\/p>\nBunun i\u00e7in 2 ayl\u0131kken fizik tedaviye ba\u015flanm\u0131\u015f olmal\u0131d\u0131r. Bu tedaviyle gev\u015fek y\u00fcz kaslar\u0131 ve dil d\u00fczeltilebilir. Kas g\u00fcc\u00fc ve motor becerilerinin yan\u0131 s\u0131ra alg\u0131lama becerisi de bu tedavinin i\u00e7eri\u011fine al\u0131nmal\u0131d\u0131r. Bu bebekler ge\u00e7 konu\u015faca\u011f\u0131ndan bir dil terapistiyle de \u00e7al\u0131\u015fmak gerekebilir. Bu durumda 3 ya\u015f\u0131nda konu\u015fma ba\u015flar.<\/p>\n
Down sendromlu \u00e7ocuklar\u0131n \u00f6zel okul yerine normal okula gitmeleri ve normal arkada\u015flar\u0131n\u0131n olmas\u0131, geli\u015fimleri ve sosyalle\u015fmeleri a\u00e7\u0131s\u0131ndan \u00e7ok \u00f6nemlidir. Bu konuda yasalar\u0131n size sa\u011flad\u0131\u011f\u0131 avantajlar\u0131 kullanman\u0131z gerekir.<\/p>\n
Tabii ki en b\u00fcy\u00fck y\u00fck\u00fcn annede olaca\u011f\u0131 unutulmamal\u0131, annenin de gerekliyse terapi almas\u0131 sa\u011flanmal\u0131d\u0131r.<\/p>\n","protected":false},"excerpt":{"rendered":"
Tebrikler, hamilesiniz\u2026 Hayat\u0131n\u0131z\u0131n en g\u00fczel haberini ald\u0131n\u0131z, ancak biliyoruz ki her anne aday\u0131 gibi do\u011facak bebe\u011finizle ilgili endi\u015feleriniz var. Bu endi\u015feleri giderene kadar da i\u00e7iniz rahat etmeyecek. Ancak bazen bu endi\u015feler ger\u00e7e\u011fe d\u00f6n\u00fc\u015febiliyor. \u00d6ncelikle \u015funu belirtmek isteriz ki; Down Sendromu bir hastal\u0131k de\u011fildir, bir genetik farkl\u0131l\u0131kt\u0131r. Kromozom anormalileri ya\u015fayan anne karn\u0131ndaki bebeklerin b\u00fcy\u00fck bir k\u0131sm\u0131, geli\u015fme g\u00f6steremezler ve hamilelik d\u00fc\u015f\u00fckle sonu\u00e7lan\u0131r. Ancak bebek geli\u015fmeyi ve do\u011fmay\u0131 ba\u015far\u0131rsa Down Sendromlu olarak do\u011fmu\u015f olabilir. Down Sendromu, t\u0131ptaki tan\u0131m\u0131yla, genetik d\u00fczensizlik sonucu insan\u0131n 21.kromozom \u00e7iftinde fazladan 1 kromozom bulunmas\u0131 sonucu ortaya \u00e7\u0131kan genetik farkl\u0131l\u0131kt\u0131r. H\u00fccre b\u00f6l\u00fcnmesi s\u0131ras\u0131nda ortaya \u00e7\u0131kan anomalik olarak da tan\u0131mlanabilir. […]<\/p>\n","protected":false},"author":1,"featured_media":2690,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[70],"tags":[],"class_list":["post-3004","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-kadin-sagligi-ve-hastaliklari-en"],"yoast_head":"\n
Down Sendromu Hakk\u0131nda Bilmeniz Gerekenler - Lifemed<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.lifemed.com.tr\/en\/down-sendromu-hakkinda-bilmeniz-gerekenler\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Down Sendromu Hakk\u0131nda Bilmeniz Gerekenler - Lifemed\" \/>\n<meta property=\"og:description\" content=\"Tebrikler, hamilesiniz\u2026 Hayat\u0131n\u0131z\u0131n en g\u00fczel haberini ald\u0131n\u0131z, ancak biliyoruz ki her anne aday\u0131 gibi do\u011facak bebe\u011finizle ilgili endi\u015feleriniz var. Bu endi\u015feleri giderene kadar da i\u00e7iniz rahat etmeyecek. Ancak bazen bu endi\u015feler ger\u00e7e\u011fe d\u00f6n\u00fc\u015febiliyor. \u00d6ncelikle \u015funu belirtmek isteriz ki; Down Sendromu bir hastal\u0131k de\u011fildir, bir genetik farkl\u0131l\u0131kt\u0131r. Kromozom anormalileri ya\u015fayan anne karn\u0131ndaki bebeklerin b\u00fcy\u00fck bir k\u0131sm\u0131, geli\u015fme g\u00f6steremezler ve hamilelik d\u00fc\u015f\u00fckle sonu\u00e7lan\u0131r. Ancak bebek geli\u015fmeyi ve do\u011fmay\u0131 ba\u015far\u0131rsa Down Sendromlu olarak do\u011fmu\u015f olabilir. Down Sendromu, t\u0131ptaki tan\u0131m\u0131yla, genetik d\u00fczensizlik sonucu insan\u0131n 21.kromozom \u00e7iftinde fazladan 1 kromozom bulunmas\u0131 sonucu ortaya \u00e7\u0131kan genetik farkl\u0131l\u0131kt\u0131r. H\u00fccre b\u00f6l\u00fcnmesi s\u0131ras\u0131nda ortaya \u00e7\u0131kan anomalik olarak da tan\u0131mlanabilir. 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Bu endi\u015feleri giderene kadar da i\u00e7iniz rahat etmeyecek. Ancak bazen bu endi\u015feler ger\u00e7e\u011fe d\u00f6n\u00fc\u015febiliyor. \u00d6ncelikle \u015funu belirtmek isteriz ki; Down Sendromu bir hastal\u0131k de\u011fildir, bir genetik farkl\u0131l\u0131kt\u0131r. Kromozom anormalileri ya\u015fayan anne karn\u0131ndaki bebeklerin b\u00fcy\u00fck bir k\u0131sm\u0131, geli\u015fme g\u00f6steremezler ve hamilelik d\u00fc\u015f\u00fckle sonu\u00e7lan\u0131r. Ancak bebek geli\u015fmeyi ve do\u011fmay\u0131 ba\u015far\u0131rsa Down Sendromlu olarak do\u011fmu\u015f olabilir. Down Sendromu, t\u0131ptaki tan\u0131m\u0131yla, genetik d\u00fczensizlik sonucu insan\u0131n 21.kromozom \u00e7iftinde fazladan 1 kromozom bulunmas\u0131 sonucu ortaya \u00e7\u0131kan genetik farkl\u0131l\u0131kt\u0131r. H\u00fccre b\u00f6l\u00fcnmesi s\u0131ras\u0131nda ortaya \u00e7\u0131kan anomalik olarak da tan\u0131mlanabilir. 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