{"id":374835,"date":"2021-09-06T19:23:50","date_gmt":"2021-09-06T16:23:50","guid":{"rendered":"https:\/\/arantv.az\/?p=374835"},"modified":"2021-09-06T19:23:50","modified_gmt":"2021-09-06T16:23:50","slug":"az%c9%99rbaycanda-bibi-qizi-dayi-oglu-evliliyind%c9%99n-nadir-mutasiya-askarlandi","status":"publish","type":"post","link":"https:\/\/arantv.az\/?p=374835","title":{"rendered":"Az\u0259rbaycanda bibi q\u0131z\u0131 day\u0131 o\u011flu evliliyind\u0259n- Nadir mutasiya a\u015fkarland\u0131"},"content":{"rendered":"

Bioloji T\u0259bab\u0259t Klinikas\u0131n\u0131n n\u0259zdind\u0259 olan Afgen Genetik Diaqnoz M\u0259rk\u0259zinin n\u00f6vb\u0259ti u\u011furu olan Pontoserebellar hipoplazi tip 6 x\u0259st\u0259liyi il\u0259 \u0259laq\u0259li daha \u0259vv\u0259l klinik \u0259d\u0259biyata daxil olmam\u0131\u015f yeni mutasiyadan s\u00f6z a\u00e7aca\u011f\u0131q.<\/b><\/p>\n

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Pasiyentl\u0259rin h\u0259m genetik konsultasiyas\u0131n\u0131, h\u0259m d\u0259biyoinformatik data analizl\u0259rini h\u0259yata ke\u00e7ird\u0259n \u0130stanbul Universitetinin m\u0259zunu, genetikm\u00fct\u0259x\u0259ssis \u0130lah\u0259 Musayevan\u0131n t\u0259qdimat\u0131nda h\u0259min ail\u0259 hekay\u0259si il\u0259 tan\u0131\u015f olun.<\/p>\n

Pontoserebellar hipoplazi, beynin inki\u015faf\u0131na t\u0259sir ed\u0259n x\u0259st\u0259lik qrupudur. Pontoserebellar hipoplazi beynin dig\u0259r hiss\u0259l\u0259rinin b\u00f6y\u00fcm\u0259sinin pozulmas\u0131na s\u0259b\u0259b olur v\u0259 bu da mikrosefaliyaya s\u0259b\u0259b olur.<\/div>\n
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Mikrosefaliya v\u0259ziyy\u0259ti ad\u0259t\u0259n do\u011fu\u015fda g\u00f6r\u00fcnm\u00fcr, ancaq beynin b\u00f6y\u00fcm\u0259si k\u00f6rp\u0259likd\u0259 v\u0259 erk\u0259n u\u015faql\u0131qda yava\u015f olma\u011fa davam etdiyi \u00fc\u00e7\u00fcn n\u0259z\u0259r\u0259 \u00e7arp\u0131r. Ara\u015fd\u0131rmac\u0131lar pontoserebellar hipoplaziyan\u0131n \u0259n az 10 n\u00f6v\u00fc oldu\u011funu qeyd edirl\u0259r. B\u00fct\u00fcn n\u00f6vl\u0259r beyin inki\u015faf\u0131n\u0131n pozulmas\u0131, \u00fcmumi inki\u015faf\u0131n l\u0259ngim\u0259si, h\u0259r\u0259k\u0259t probleml\u0259ri v\u0259 \u0259qli gerilik il\u0259 xarakteriz\u0259 olunur.<\/div>\n
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Beyin anomaliyalar\u0131 \u00fcmumiyy\u0259tl\u0259 do\u011fu\u015f zaman\u0131 olur v\u0259 b\u0259zi hallarda do\u011fumdan \u0259vv\u0259l a\u015fkar edil\u0259 bil\u0259r.<\/div>\n
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Pontoserebellar hipoplaziyas\u0131 olan bir \u00e7ox u\u015faq yaln\u0131z k\u00f6rp\u0259lik d\u00f6vr\u00fcn\u0259 q\u0259d\u0259r ya\u015faya bilirl\u0259r.<\/div>\n
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X\u0259st\u0259liyin irsiyy\u0259t tipi autozomal resessivdir.<\/div>\n
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1-ci d\u0259r\u0259c\u0259d\u0259n qohum evliliyi etmi\u015f ail\u0259 (bibi q\u0131z\u0131-day\u0131 o\u011flu) Afgen Genetik Diaqnoz M\u0259rk\u0259zin\u0259 genetik konsultasiya \u00fc\u00e7\u00fcn yax\u0131nla\u015fd\u0131\u011f\u0131nda \u00e7oxsayl\u0131 inki\u015faf q\u00fcsuru il\u0259 art\u0131q iki k\u00f6rp\u0259sini (Hamil\u0259liyin 19.cu h\u0259ft\u0259sind\u0259 beyincik inki\u015faf\u0131n\u0131n durmas\u0131) itirmi\u015fdi v\u0259 bir sonraki hamil\u0259liyin art\u0131q planl\u0131 bir \u015f\u0259kild\u0259 prenatal diaqnostika il\u0259 h\u0259yata ke\u00e7irdilm\u0259sini ist\u0259yirdi.<\/div>\n
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3-c\u00fc hamil\u0259lik s\u00fcni do\u011fu\u015fla sonland\u0131r\u0131ld\u0131qdan sonra k\u00f6rp\u0259d\u0259n d\u0259 n\u00fcmun\u0259 g\u00f6t\u00fcr\u00fcld\u00fc.<\/div>\n
Differensial diaqnostika v\u0259 d\u0259qiq diaqnoz m\u0259qs\u0259dil\u0259 ata v\u0259 anan\u0131n h\u0259r ikisin\u0259 WES (b\u00fct\u00fcn ekzom sekanslama) analizinin edilm\u0259si t\u00f6vsiy\u0259 edildi. Pasiyentl\u0259rin WES datas\u0131 d\u0259qiq biyoinformatik analiz programlar\u0131 vasit\u0259si il\u0259 genetik m\u00fct\u0259x\u0259ssisimiz Ilah\u0259 Musayeva t\u0259r\u0259find\u0259n inc\u0259l\u0259ndikd\u0259n<\/div>\n
sonra ata v\u0259 anan\u0131n h\u0259r ikisind\u0259 Pontoserebellar hipoplaziya tip 6 x\u0259st\u0259liyi il\u0259 \u0259laq\u0259li RARS2 genind\u0259 mutasiya a\u015fkarland\u0131. K\u00f6rp\u0259d\u0259n \u0259ld\u0259 edilmi\u015f DNT n\u00fcmun\u0259sind\u0259n mikroarray (aCGH) analizi edildi v\u0259 analizin n\u0259tic\u0259sind\u0259 kliniki v\u0259ziyy\u0259tl\u0259 \u0259laq\u0259li xromosomal kopya say\u0131 d\u0259yi\u015fikliyi a\u015fkarlanmad\u0131.<\/div>\n
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Anada RARS2 genind\u0259 klinik olaraq tan\u0131ml\u0131 olmayan patojenik c. C733T (p. R245W) (DM)variant\u0131 heterozigot v\u0259ziyy\u0259td\u0259 a\u015fkarland\u0131. B\u0259hsi ke\u00e7\u0259n varyant yanl\u0131\u015f anlaml\u0131 varyantlar\u0131n patojeniteleri haqq\u0131nda t\u0259xmin d\u0259y\u0259ri ver\u0259n REVEL v\u0259 Mutation Taster programlar\u0131ndan ke\u00e7irdilmi\u015fdir.<\/div>\n
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REVEL in silico t\u0259xmin program\u0131 b\u0259hsi ke\u00e7\u0259n varyant \u00fc\u00e7\u00fcn verdiyi d\u0259y\u0259r<\/div>\n
say\u0259sind\u0259 (REVEL: 6,88240540,87530822,G,A,R,W,0.575) varyant haqq\u0131nda \u201cz\u0259r\u0259rli, x\u0259st\u0259lik s\u0259b\u0259bi olabil\u0259r\u201d ehtimal\u0131 bildirildi. Eyni zamanda Mutation taster veritaban\u0131nda da bu varyant haqq\u0131nda DM (disease-causing) oldu\u011fu belirtildi. Sanger konfirmasyon analizi edildi.<\/div>\n
Atada RARS2 genind\u0259 klinik olaraq tan\u0131ml\u0131 patojenik c.633_636del:p.E212Qfs*7 (DM) variant\u0131 heterozigot v\u0259ziyy\u0259td\u0259 a\u015fkarland\u0131. B\u0259hsi ke\u00e7\u0259n varyant haqq\u0131nda Mutation taster v\u0259 ClinVar<\/div>\n
veritabanlar\u0131nda \u201cpathogenic\u201d oldu\u011fu belirtildi. Sanger konfirmasyon analizi edildi.<\/div>\n
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Ana v\u0259 atan\u0131n b\u0259hsi ke\u00e7\u0259n x\u0259st\u0259lik \u00fc\u00e7\u00fcn da\u015f\u0131y\u0131c\u0131 oldu\u011fu m\u00fc\u0259yy\u0259nl\u0259\u015fdikd\u0259n sonra s\u00fcni do\u011fu\u015f edilmi\u015f k\u00f6rp\u0259d\u0259n \u0259ld\u0259 edil\u0259n DNT\u2019d\u0259n b\u0259hsi ke\u00e7\u0259n mutasiyalar \u00fc\u00e7\u00fcn segregasiya analizi edildi v\u0259 k\u00f6rp\u0259d\u0259 h\u0259r iki mutasiya bax\u0131m\u0131ndan kompound-heterozigot v\u0259ziyy\u0259tinin oldu\u011fu a\u015fkarland\u0131.<\/div>\n
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Ail\u0259y\u0259 d\u00fczg\u00fcn genetik dan\u0131\u015fma v\u0259 prenatal diaqnostika haqq\u0131nda m\u0259lumat verildi. Bu \u00e7al\u0131\u015fman\u0131ntibb al\u0259mi \u00fc\u00e7\u00fcn d\u0259y\u0259rli olmas\u0131n\u0131n s\u0259b\u0259bi h\u0259m x\u0259st\u0259liyin bu tipinin olduca nadir olmas\u0131, h\u0259m d\u0259 a\u015fkarlanan mutasiyalardan birinin daha \u00f6nc\u0259 klinik \u0259d\u0259biyyatda yer almam\u0131\u015f olmas\u0131d\u0131r.<\/div>\n
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Bioloji T\u0259bab\u0259t Klinikas\u0131n\u0131n n\u0259zdind\u0259 olan Afgen Genetik Diaqnoz M\u0259rk\u0259zinin n\u00f6vb\u0259ti u\u011furu olan Pontoserebellar hipoplazi tip 6 x\u0259st\u0259liyi il\u0259 \u0259laq\u0259li daha \u0259vv\u0259l klinik \u0259d\u0259biyata daxil olmam\u0131\u015f yeni mutasiyadan s\u00f6z a\u00e7aca\u011f\u0131q.       Pasiyentl\u0259rin h\u0259m genetik konsultasiyas\u0131n\u0131, h\u0259m d\u0259biyoinformatik data analizl\u0259rini h\u0259yata ke\u00e7ird\u0259n \u0130stanbul Universitetinin m\u0259zunu, genetikm\u00fct\u0259x\u0259ssis \u0130lah\u0259 Musayevan\u0131n t\u0259qdimat\u0131nda h\u0259min ail\u0259 hekay\u0259si il\u0259 tan\u0131\u015f olun. Pontoserebellar hipoplazi, beynin inki\u015faf\u0131na t\u0259sir ed\u0259n x\u0259st\u0259lik qrupudur. Pontoserebellar hipoplazi beynin dig\u0259r hiss\u0259l\u0259rinin b\u00f6y\u00fcm\u0259sinin pozulmas\u0131na s\u0259b\u0259b olur v\u0259 bu da mikrosefaliyaya s\u0259b\u0259b olur. Mikrosefaliya v\u0259ziyy\u0259ti ad\u0259t\u0259n do\u011fu\u015fda g\u00f6r\u00fcnm\u00fcr, ancaq beynin b\u00f6y\u00fcm\u0259si k\u00f6rp\u0259likd\u0259 v\u0259 erk\u0259n u\u015faql\u0131qda…<\/p>\n","protected":false},"author":2,"featured_media":374837,"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\/2021\/09\/2021-09-06-17-32-11thn9GD1mFuEoyK7uT4Oe_file.jpg",1964,1459,false],"landscape":["https:\/\/arantv.az\/wp-content\/uploads\/2021\/09\/2021-09-06-17-32-11thn9GD1mFuEoyK7uT4Oe_file.jpg",1964,1459,false],"portraits":["https:\/\/arantv.az\/wp-content\/uploads\/2021\/09\/2021-09-06-17-32-11thn9GD1mFuEoyK7uT4Oe_file.jpg",1964,1459,false],"thumbnail":["https:\/\/arantv.az\/wp-content\/uploads\/2021\/09\/2021-09-06-17-32-11thn9GD1mFuEoyK7uT4Oe_file-500x280.jpg",500,280,true],"medium":["https:\/\/arantv.az\/wp-content\/uploads\/2021\/09\/2021-09-06-17-32-11thn9GD1mFuEoyK7uT4Oe_file-491x365.jpg",491,365,true],"large":["https:\/\/arantv.az\/wp-content\/uploads\/2021\/09\/2021-09-06-17-32-11thn9GD1mFuEoyK7uT4Oe_file-840x624.jpg",640,475,true],"1536x1536":["https:\/\/arantv.az\/wp-content\/uploads\/2021\/09\/2021-09-06-17-32-11thn9GD1mFuEoyK7uT4Oe_file-1536x1141.jpg",1536,1141,true],"2048x2048":["https:\/\/arantv.az\/wp-content\/uploads\/2021\/09\/2021-09-06-17-32-11thn9GD1mFuEoyK7uT4Oe_file.jpg",1964,1459,false],"post-thumbnail":["https:\/\/arantv.az\/wp-content\/uploads\/2021\/09\/2021-09-06-17-32-11thn9GD1mFuEoyK7uT4Oe_file-240x172.jpg",240,172,true],"advps-thumb-one":["https:\/\/arantv.az\/wp-content\/uploads\/2021\/09\/2021-09-06-17-32-11thn9GD1mFuEoyK7uT4Oe_file-1200x620.jpg",1200,620,true]},"rttpg_author":{"display_name":"V\u00fcsal Rafiqo\u011flu","author_link":"https:\/\/arantv.az\/?author=2"},"rttpg_comment":0,"rttpg_category":"Sosial<\/a>","rttpg_excerpt":"Bioloji T\u0259bab\u0259t Klinikas\u0131n\u0131n n\u0259zdind\u0259 olan Afgen Genetik Diaqnoz M\u0259rk\u0259zinin n\u00f6vb\u0259ti u\u011furu olan Pontoserebellar hipoplazi tip 6 x\u0259st\u0259liyi il\u0259 \u0259laq\u0259li daha \u0259vv\u0259l klinik \u0259d\u0259biyata daxil olmam\u0131\u015f yeni mutasiyadan s\u00f6z a\u00e7aca\u011f\u0131q.       Pasiyentl\u0259rin h\u0259m genetik konsultasiyas\u0131n\u0131, h\u0259m d\u0259biyoinformatik data analizl\u0259rini h\u0259yata ke\u00e7ird\u0259n \u0130stanbul Universitetinin m\u0259zunu, genetikm\u00fct\u0259x\u0259ssis \u0130lah\u0259 Musayevan\u0131n t\u0259qdimat\u0131nda h\u0259min ail\u0259 hekay\u0259si il\u0259 tan\u0131\u015f olun.…","_links":{"self":[{"href":"https:\/\/arantv.az\/index.php?rest_route=\/wp\/v2\/posts\/374835"}],"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=374835"}],"version-history":[{"count":0,"href":"https:\/\/arantv.az\/index.php?rest_route=\/wp\/v2\/posts\/374835\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/arantv.az\/index.php?rest_route=\/wp\/v2\/media\/374837"}],"wp:attachment":[{"href":"https:\/\/arantv.az\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=374835"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/arantv.az\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=374835"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/arantv.az\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=374835"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}