{"id":206144,"date":"2020-08-18T07:59:21","date_gmt":"2020-08-18T04:59:21","guid":{"rendered":"http:\/\/arantv.az\/?p=206144"},"modified":"2020-08-18T07:59:21","modified_gmt":"2020-08-18T04:59:21","slug":"%c9%99n-cox-rast-g%c9%99lin%c9%99n-xromosom-anomaliyasi-daun-sindromu","status":"publish","type":"post","link":"https:\/\/arantv.az\/?p=206144","title":{"rendered":"\u018fn \u00e7ox rast g\u0259lin\u0259n xromosom anomaliyas\u0131 – DAUN S\u0130NDROMU"},"content":{"rendered":"

\u0130lk d\u0259f\u0259 1866-c\u0131 ild\u0259 John Langdon Down t\u0259r\u0259find\u0259n t\u0259svir edilmi\u015fdir. Genetik \u0259sas\u0131 is\u0259 1959-cu ild\u0259 Jerome Lejeune t\u0259r\u0259find\u0259n a\u015fkar edilib. Bel\u0259 ki, Daun sindromu (DS) insan\u0131n 21-ci xromosomu il\u0259 ba\u011fl\u0131 genetik nizams\u0131zl\u0131q (art\u0131q kopya da\u015f\u0131mas\u0131 v\u0259 ya 21-ci xromosoma aid par\u00e7an\u0131n ba\u015fqa bir xromosoma translokasiyas\u0131) n\u0259tic\u0259sind\u0259 ortaya \u00e7\u0131xan xromosom anomaliyas\u0131d\u0131r.<\/p>\n

Rastg\u0259lm\u0259 tezliyi \u0259n son statistikaya g\u00f6r\u0259 1:730-d\u0131r. Anan\u0131n ya\u015f\u0131 artd\u0131qca bu x\u0259st\u0259liyin rastg\u0259lm\u0259 tezliyi art\u0131r v\u0259 45 ya\u015f\u0131n \u00fcst\u00fcnd\u0259 risk 1:30 nisb\u0259ti q\u0259d\u0259r y\u00fcks\u0259kdir. Amma bu o, dem\u0259k deyil ki, a\u015fa\u011f\u0131 ya\u015flarda t\u0259sad\u00fcf olunmur. H\u0259r ya\u015fda olan hamil\u0259l\u0259rd\u0259 m\u00fc\u0259yy\u0259n nisb\u0259td\u0259 rast g\u0259lin\u0259 bil\u0259r. Bu s\u0259b\u0259bd\u0259n prenatal skrininqin apar\u0131lmas\u0131 vacibdir.<\/p>\n

\"\"<\/strong><\/p>\n

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<\/div>\n<\/div>\n<\/div>\n

X\u0259st\u0259liyin \u00fc\u00e7 n\u00f6v\u00fc var:<\/strong><\/p>\n

– Trisomiya 21 (47, + 21) \u2013 95 %, ana ya\u015f\u0131 artd\u0131qca risk art\u0131r.<\/p>\n

– 21-ci xromosomun Robertson tipi translokasiyas\u0131: 3-4 % rast g\u0259linir, ana ya\u015f\u0131 il\u0259 \u0259laq\u0259si yoxdur.<\/p>\n

Translokasyon Daun sindomunun s\u0259b\u0259bi 21-ci xromosoma aid bir par\u00e7an\u0131n ba\u015fqa bir xromosoma yap\u0131\u015fmas\u0131, y\u0259ni translokasiyas\u0131d\u0131r (ana v\u0259 ya atadan h\u0259r hans\u0131 biri 21-ci xromosomda balansl\u0131 translokasiya da\u015f\u0131y\u0131c\u0131s\u0131 olduqda \u00f6zl\u0259ri x\u0259st\u0259lik \u0259lam\u0259ti da\u015f\u0131masalarda \u00f6vladlar\u0131na ke\u00e7\u0259 bil\u0259r)<\/p>\n

– Mozaik 21 trisomiya (47 +21\/46): 1-2 % rast g\u0259linir<\/p>\n

\u0130rsi olaraq ke\u00e7m\u0259y\u0259n Mozaik Daun sindromunun is\u0259 s\u0259b\u0259bi v\u00fccud h\u00fcceyr\u0259l\u0259rinin b\u0259zil\u0259rind\u0259 21-ci xromosoma aid \u0259lav\u0259 kopya da\u015f\u0131nmas\u0131d\u0131r.<\/p>\n

Daun sindromu il\u0259 do\u011fulan u\u015faqlar\u0131n xarakterik xarici g\u00f6r\u00fcn\u00fc\u015f\u00fc olur:<\/strong><\/p>\n

Braxisefaliya, g\u00f6z yar\u0131\u011f\u0131 \u00e7\u0259pliyi, epikantus (g\u00f6z buca\u011f\u0131nda d\u0259ri b\u00fck\u00fc\u015fl\u00fc), burun k\u00f6k\u00fc bat\u0131q v\u0259 geni\u015f, displastik qulaqlar, a\u00e7\u0131q a\u011f\u0131z, q\u0131sa boyun, dar damaq, anormal di\u015fl\u0259r, boyunda \u0259lav\u0259 d\u0259ri qatlant\u0131s\u0131, q\u0131sa, geni\u015f \u0259ll\u0259r, q\u0131sa, \u0259yilmi\u015f 5 ci barmaq, ayaqlarda 1 v\u0259 2-ci barmaq aras\u0131nda geni\u015f m\u0259saf\u0259 v\u0259 s.<\/p>\n

Bundan ba\u015fqa DS-li pasiyentl\u0259rd\u0259 a\u015fa\u011f\u0131dak\u0131 probleml\u0259r olur:<\/strong><\/p>\n

Dem\u0259k olar ki, b\u00fct\u00fcn DS-li pasiyentl\u0259rd\u0259 m\u00fc\u0259yy\u0259n s\u0259viyy\u0259d\u0259 (az v\u0259 ya \u00e7ox) \u0259qli gerilik olur. \u018fqli gerilik h\u0259yat\u0131n ilk ilind\u0259 ba\u015flay\u0131r. Bu u\u015faqlarda ortalama oturma ya\u015f\u0131 (11 ay), im\u0259kl\u0259m\u0259 (17 ay) v\u0259 yerim\u0259 (26 ay) gec ya\u015flarda olur (normadan 2 d\u0259f\u0259 gec), ilk s\u00f6zl\u0259ri 18 ayda deyirl\u0259r. \u0130Q ilk 10 ya\u015fda d\u00fc\u015f\u00fcr v\u0259 sonra stabill\u0259\u015fir, yetkin ya\u015fda stabil qal\u0131r.<\/p>\n

15-20%-d\u0259 psixiatrik pozuntulara rast g\u0259linir. DS-li yetkinl\u0259rin 25 %-d\u0259 a\u011f\u0131r depressiya v\u0259 ya aqressiv davran\u0131\u015f pozuntusu olur, 7%-d\u0259 autizm\u0259\u00a0 rast g\u0259linir. Ya\u015fa dolmu\u015f pasiyentl\u0259rd\u0259 demensiya v\u0259 Alsheymer x\u0259st\u0259liyi tez-tez rast g\u0259linir. 50% pasiyentl\u0259rd\u0259 anadang\u0259lm\u0259 \u00fcr\u0259k q\u00fcsuru olur, 23%-d\u0259 bird\u0259n \u00e7ox q\u00fcsur rast g\u0259linir. 5% DS\u2013d\u0259 qastroenteroloji probleml\u0259r olur: duodenal atreziya v\u0259 ya stenoz, Hir\u015fprung x\u0259st\u0259liyi. Bundan ba\u015fqa DS- li x\u0259st\u0259l\u0259rin 5\u201316 %-d\u0259 seliakiya ola bil\u0259r.<\/p>\n

\u018fn \u00e7ox rast g\u0259lin\u0259n probleml\u0259rd\u0259n biri g\u00f6z probleml\u0259ridir: refraktor q\u00fcsurlar \u2013 35 – 76 %, \u00e7\u0259pg\u00f6zl\u00fck \u2013 25 – 57 %, nistaqm \u2013 18 – 22 %.<\/p>\n

Katarakta yenido\u011fulmu\u015flar\u0131n 5 % – d\u0259 rast g\u0259linir, qlaukoma daha \u00e7oxdur.<\/p>\n

Ya\u015f artd\u0131qca g\u00f6z probleml\u0259rinin rast g\u0259lm\u0259 s\u0131xl\u0131\u011f\u0131 art\u0131r. Eyni zamanda e\u015fitm\u0259 q\u00fcsurlar\u0131, endokrin pozulmalar, reproduktiv pozulmalar daha \u00e7ox olur. DS\u2013li qad\u0131nlar fertildir v\u0259 hamil\u0259 qala bil\u0259rl\u0259r!<\/p>\n

Ki\u015fil\u0259rin dem\u0259k olar ki, \u00e7oxu spermatogenezin pozulmas\u0131 il\u0259 ba\u011fl\u0131 infertildir. Bu pasiyentl\u0259rd\u0259 atlantoaksial instabillik olur, y\u0259ni C1 v\u0259 C2 f\u0259q\u0259r\u0259l\u0259rin h\u0259ddind\u0259n art\u0131q mobil olmas\u0131, servikal sublaksasiyaya s\u0259b\u0259b ola bil\u0259r. Diaqnoz boyun rentgeni il\u0259 qoyulur. Bu diaqnoz qoyulmu\u015f pasiyentl\u0259r\u0259 idman il\u0259 m\u0259\u015f\u011ful olmamalar\u0131 t\u00f6vsiy\u0259 edilir!\u00a0 DS-li pasiyentl\u0259rin 30 \u2013 75%-d\u0259 yuxu apnoesi rast g\u0259lin\u0259 bilin\u0259r v\u0259 s.<\/p>\n

Diaqnoz \u00fc\u00e7\u00fcn:<\/strong><\/p>\n

– Prenatal skrininq (hamil\u0259likd\u0259)<\/p>\n

– X\u0259st\u0259liyin prenatal olaraq diaqnostikas\u0131 m\u0259qs\u0259dil\u0259 QF-PCR (invaziv prenatal diaqnostika) testind\u0259n hamil\u0259liyin 16-c\u0131 h\u0259ft\u0259sind\u0259n etibar\u0259n risk hesablanmas\u0131 edilir.<\/p>\n

– Prenatal skrininq apar\u0131lmay\u0131bsa \u2013 do\u011fu\u015fdan sonra tipik \u0259lam\u0259tl\u0259r\u0259 g\u00f6r\u0259\u00a0 \u015f\u00fcbh\u0259l\u0259nilir, amma d\u0259qiq diaqnoz \u2013 kariotip analizi il\u0259 t\u0259sdiql\u0259nm\u0259lidir!<\/p>\n

Daun sindromlu u\u015faqlar\u0131n sosial ortama uy\u011funla\u015fmas\u0131, potensiallar\u0131n\u0131 tam olaraq inki\u015faf etdirm\u0259si v\u0259 \u00f6zl\u0259rin\u0259 yeterli bir h\u0259yat s\u00fcr\u0259 bilm\u0259l\u0259ri \u00fc\u00e7\u00fcn ail\u0259l\u0259rin\u0259, \u0259trafa b\u00f6y\u00fck ehtiyaclar\u0131 var.<\/p>\n

Bu m\u0259qs\u0259dl\u0259:<\/strong><\/p>\n

– Prenatal diaqnoz t\u0259sdiql\u0259ninc\u0259 ail\u0259 m\u0259lumatland\u0131r\u0131lmal\u0131d\u0131r!<\/p>\n

– Ail\u0259y\u0259 m\u00fctl\u0259q proqnozlar haqq\u0131nda m\u0259lumat verilm\u0259lidir!<\/p>\n

– M\u00fcalic\u0259l\u0259r v\u0259 t\u0259dris haqda ail\u0259l\u0259r il\u0259 m\u00fczakir\u0259 apar\u0131lmal\u0131d\u0131r!<\/p>\n

Daun sindromlu u\u015faqlar x\u00fcsusi bir t\u0259liml\u0259 normal f\u0259rd kimi c\u0259miyy\u0259t\u0259 qat\u0131l\u0131b pe\u015f\u0259 sahibi ola bil\u0259r. Onlar\u0131n musiqi duyumu y\u00fcks\u0259kdir, g\u00f6z\u0259l r\u0259qs edirl\u0259r, \u0259l qabiliyy\u0259tl\u0259ri var. DS x\u0259st\u0259likd\u0259n \u00e7ox f\u0259rqlilik kimi q\u0259bul edildiyini ail\u0259l\u0259r bilm\u0259lidir.<\/p>\n

Qeyd ed\u0259k ki, Daun sindromu d\u00fcnyada x\u0259st\u0259lik deyil, f\u0259rqlilik kimi q\u0259bul edilir.
\n<\/strong><\/p>\n

 <\/p>\n

M\u0259qal\u0259 Bioloji t\u0259bab\u0259t klinikas\u0131 t\u0259r\u0259find\u0259n t\u0259qdim olunub<\/strong><\/p>\n

www.biolojitababat.az<\/a><\/p>\n","protected":false},"excerpt":{"rendered":"

\u0130lk d\u0259f\u0259 1866-c\u0131 ild\u0259 John Langdon Down t\u0259r\u0259find\u0259n t\u0259svir edilmi\u015fdir. Genetik \u0259sas\u0131 is\u0259 1959-cu ild\u0259 Jerome Lejeune t\u0259r\u0259find\u0259n a\u015fkar edilib. Bel\u0259 ki, Daun sindromu (DS) insan\u0131n 21-ci xromosomu il\u0259 ba\u011fl\u0131 genetik nizams\u0131zl\u0131q (art\u0131q kopya da\u015f\u0131mas\u0131 v\u0259 ya 21-ci xromosoma aid par\u00e7an\u0131n ba\u015fqa bir xromosoma translokasiyas\u0131) n\u0259tic\u0259sind\u0259 ortaya \u00e7\u0131xan xromosom anomaliyas\u0131d\u0131r. Rastg\u0259lm\u0259 tezliyi \u0259n son statistikaya g\u00f6r\u0259 1:730-d\u0131r. Anan\u0131n ya\u015f\u0131 artd\u0131qca bu x\u0259st\u0259liyin rastg\u0259lm\u0259 tezliyi art\u0131r v\u0259 45 ya\u015f\u0131n \u00fcst\u00fcnd\u0259 risk 1:30 nisb\u0259ti q\u0259d\u0259r y\u00fcks\u0259kdir. Amma bu o, dem\u0259k deyil ki, a\u015fa\u011f\u0131 ya\u015flarda t\u0259sad\u00fcf olunmur. H\u0259r ya\u015fda olan hamil\u0259l\u0259rd\u0259 m\u00fc\u0259yy\u0259n nisb\u0259td\u0259…<\/p>\n","protected":false},"author":2,"featured_media":206145,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"om_disable_all_campaigns":false,"_monsterinsights_skip_tracking":false,"_monsterinsights_sitenote_active":false,"_monsterinsights_sitenote_note":"","_monsterinsights_sitenote_category":0},"categories":[26],"tags":[],"aioseo_notices":[],"gutentor_comment":0,"rttpg_featured_image_url":{"full":["https:\/\/arantv.az\/wp-content\/uploads\/2020\/08\/daun_sindromu_002.jpg",640,400,false],"landscape":["https:\/\/arantv.az\/wp-content\/uploads\/2020\/08\/daun_sindromu_002.jpg",640,400,false],"portraits":["https:\/\/arantv.az\/wp-content\/uploads\/2020\/08\/daun_sindromu_002.jpg",640,400,false],"thumbnail":["https:\/\/arantv.az\/wp-content\/uploads\/2020\/08\/daun_sindromu_002-150x150.jpg",150,150,true],"medium":["https:\/\/arantv.az\/wp-content\/uploads\/2020\/08\/daun_sindromu_002-300x188.jpg",300,188,true],"large":["https:\/\/arantv.az\/wp-content\/uploads\/2020\/08\/daun_sindromu_002.jpg",640,400,false],"1536x1536":["https:\/\/arantv.az\/wp-content\/uploads\/2020\/08\/daun_sindromu_002.jpg",640,400,false],"2048x2048":["https:\/\/arantv.az\/wp-content\/uploads\/2020\/08\/daun_sindromu_002.jpg",640,400,false],"post-thumbnail":["https:\/\/arantv.az\/wp-content\/uploads\/2020\/08\/daun_sindromu_002-240x172.jpg",240,172,true],"advps-thumb-one":["https:\/\/arantv.az\/wp-content\/uploads\/2020\/08\/daun_sindromu_002.jpg",640,400,false]},"rttpg_author":{"display_name":"V\u00fcsal Rafiqo\u011flu","author_link":"https:\/\/arantv.az\/?author=2"},"rttpg_comment":0,"rttpg_category":"Sosial<\/a>","rttpg_excerpt":"\u0130lk d\u0259f\u0259 1866-c\u0131 ild\u0259 John Langdon Down t\u0259r\u0259find\u0259n t\u0259svir edilmi\u015fdir. Genetik \u0259sas\u0131 is\u0259 1959-cu ild\u0259 Jerome Lejeune t\u0259r\u0259find\u0259n a\u015fkar edilib. Bel\u0259 ki, Daun sindromu (DS) insan\u0131n 21-ci xromosomu il\u0259 ba\u011fl\u0131 genetik nizams\u0131zl\u0131q (art\u0131q kopya da\u015f\u0131mas\u0131 v\u0259 ya 21-ci xromosoma aid par\u00e7an\u0131n ba\u015fqa bir xromosoma translokasiyas\u0131) n\u0259tic\u0259sind\u0259 ortaya \u00e7\u0131xan xromosom anomaliyas\u0131d\u0131r. Rastg\u0259lm\u0259 tezliyi \u0259n son statistikaya…","_links":{"self":[{"href":"https:\/\/arantv.az\/index.php?rest_route=\/wp\/v2\/posts\/206144"}],"collection":[{"href":"https:\/\/arantv.az\/index.php?rest_route=\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/arantv.az\/index.php?rest_route=\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/arantv.az\/index.php?rest_route=\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/arantv.az\/index.php?rest_route=%2Fwp%2Fv2%2Fcomments&post=206144"}],"version-history":[{"count":0,"href":"https:\/\/arantv.az\/index.php?rest_route=\/wp\/v2\/posts\/206144\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/arantv.az\/index.php?rest_route=\/wp\/v2\/media\/206145"}],"wp:attachment":[{"href":"https:\/\/arantv.az\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=206144"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/arantv.az\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=206144"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/arantv.az\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=206144"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}