{"id":6842,"date":"2018-03-20T15:29:08","date_gmt":"2018-03-20T13:29:08","guid":{"rendered":"https:\/\/www.synevo.ro\/sindromul-down\/"},"modified":"2021-01-21T19:01:37","modified_gmt":"2021-01-21T17:01:37","slug":"sindromul-down","status":"publish","type":"post","link":"https:\/\/old.synevo.md\/ru\/sindromul-down\/","title":{"rendered":"Sindromul Down"},"content":{"rendered":"

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Organismul uman este format din miliarde de celule, fiecare dintre ele av\u00e2nd c\u00e2te 46 de cromozomi. Fiecare cromozom este format din ADN, care con\u0163ine informa\u0163ia necesar\u0103 pentru dezvoltarea fiec\u0103ruia dintre noi. Sindromul Down este determinat de prezen\u0163a unui cromozom 21 suplimentar \u00een celule (trisomia 21).

Cele mai multe cazuri apar la momentul concep\u0163iei \u015fi doar pu\u0163ine cazuri printr-un accident postfertilizare (formele \u00een mozaic), \u00een toate grupele sociale \u015fi etnice \u00een mod egal.<\/p><\/div>\n\n

\"sindromul<\/figure><\/div><\/div><\/div>

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Ca \u015fi manifest\u0103ri clinice, persoanele cu sindrom Down pot avea:<\/div>\n <\/div>\n

Tr\u0103s\u0103turi fizice caracteristice;<\/p>\n

Modific\u0103ri ale dezvolt\u0103rii fizice \u015fi intelectuale;<\/p>\n

Malforma\u0163ii ale diverselor organe (cel mai frecvent malforma\u0163ii congenitale de cord);<\/p>\n

Tonus muscular sc\u0103zut.<\/p>\n<\/div>\n \n <\/div>\n \n \n <\/div>\n<\/div>

Istoria Sindromului Down<\/span><\/strong><\/h2>
\"sindromul<\/figure><\/div>

Aceste tr\u0103s\u0103turi pot varia de la o persoana la alta. \u00cen prezent, unii pacien\u0163i cu sindrom Down pot fi integra\u0163i \u00een via\u0163a social\u0103 a comunit\u0103\u0163ii, put\u00e2nd chiar practica anumite meserii, \u00een timp ce al\u0163ii pot avea nevoie de un suport sus\u0163inut din partea familiei \u015fi a societ\u0103\u0163ii. La na\u015ftere, indiferent de formula cromozomial\u0103, nu se poate prezice evolu\u0163ia unui copil cu sindrom Down. Ajutorul familiei, mediul \u00een care se va dezvolta, factorii sociali \u015fi culturali vor influen\u0163a evolu\u0163ia acestuia pe parcursul vie\u0163ii. \u00cen SUA \u015fi anumite state europene se investesc foarte multe fonduri \u00een recuperarea \u015fi integrarea \u00een societate a persoanelor cu sindromul Down \u2013 recomand\u00e2ndu-se includerea copiilor cu trisomia 21 \u00een clase normale de studiu, adul\u0163ii sunt anga\u0163i \u00een firme mici \u015fi medii, \u00een centre de \u00eengrijire b\u0103tr\u00e2ni \u015fi copii, hoteluri, restaurante, industria muzical\u0103, sport etc.<\/p>

Istoria sindromului Down \u00eencepe demult (dovad\u0103 c\u00e2teva picturi cunoscute \u00een care sunt \u00eenf\u0103\u0163i\u015fate personaje av\u00e2nd tr\u0103s\u0103turi specifice trisomiei 21 \u2013 tabloul flamand The Adoration of the Christ Child, 1510)*.<\/p>

Afectiunea a fost pentru prima oar\u0103 descris\u0103 \u00een anul 1866 de c\u0103tre medicul englez Langdon Down<\/a>, care a construit \u00een Londra un centru pentru \u00eengrijirea persoanelor cu dizabilit\u0103\u0163i.<\/p>

\u00cen 1959 geneticianul francez Jerome Lejeune<\/a> a descoperit cauza acestui sindrom, \u015fi anume, prezen\u0163a unui cromozom 21 supranumerar.<\/p>

\u00cen 1996 a fost creat\u0103 Funda\u0163ia Jerome Lejeun al c\u0103rui principal scop este reprezentat de g\u0103sirea unui tratament pentru pacien\u0163ii cu dizabilit\u0103\u0163i intelectuale de cauz\u0103 genetic\u0103 (\u00een special sindromul Down). Recent, Funda\u0163ia a patentat o familie de molecule care inhib\u0103 una dintre enzimele responsabile pentru retardul mental asociat cu trisomia 21.<\/p>

\u00cen laboratoarele Synevo sunt disponibile:<\/th><\/tr><\/thead>
Teste genetice ce pot confirma sindromul Down at\u00e2t prenatal (de la testarea non invaziv\u0103 a ADN-ului fetal \u00een sangele matern \u2013VERAgene, VERACITY, NIFTY<\/a> \u2013 p\u00e2n\u0103 la diagnosticul prenatal prin analiza cromozomial\u0103 din vilozit\u0103\u0163i coriale sau lichid amniotic), c\u00e2t \u015fi postnatal, prin analiza cromozomial\u0103 din s\u00e2nge periferic.<\/td><\/tr><\/tbody><\/table><\/figure>
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\r\n Testarea prenatal\u0103 neinvaziv\u0103 pentru aneuploidii fetale – trisomii, microdele\u021bii, boli monogenice (Veragene) NEW<\/a>\r\n
\r\n \u0426\u0435\u043d\u0430<\/span>\r\n 12200 lei<\/span>\r\n <\/div>\r\n
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<\/div><\/a>\r\n <\/div>\r\n <\/div>\r\n
\r\n \u041d\u0435\u0438\u043d\u0432\u0430\u0437\u0438\u0432\u043d\u044b\u0439 \u043f\u0440\u0435\u043d\u0430\u0442\u0430\u043b\u044c\u043d\u044b\u0439 \u0442\u0435\u0441\u0442 Veracity \u043d\u0430 \u043d\u0430\u043b\u0438\u0447\u0438\u0435 \u0443 \u043f\u043b\u043e\u0434\u0430 \u0430\u043d\u0435\u0443\u043f\u043b\u043e\u0438\u0434\u0438\u0439 13, 18, 21 13, 18, 21, \u043d\u0430\u043b\u0438\u0447\u0438\u0435 cz Y<\/a>\r\n
\r\n \u0426\u0435\u043d\u0430<\/span>\r\n 7200 lei<\/span>\r\n <\/div>\r\n
\r\n
<\/div><\/a>\r\n <\/div>\r\n <\/div>\r\n
\r\n Testarea prenatal\u0103 neinvaziv\u0103 pentru aneuploidii fetale – trisomii 13, 18, 21, X, Y, microdele\u021bii (Veracity) NEW<\/a>\r\n
\r\n \u0426\u0435\u043d\u0430<\/span>\r\n 9400 lei<\/span>\r\n <\/div>\r\n
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<\/div><\/a>\r\n <\/div>\r\n <\/div>\r\n
\r\n \u041d\u0435\u0438\u043d\u0432\u0430\u0437\u0438\u0432\u043d\u043e\u0435 \u043f\u0440\u0435\u043d\u0430\u0442\u0430\u043b\u044c\u043d\u043e\u0435 \u043e\u0431\u0441\u043b\u0435\u0434\u043e\u0432\u0430\u043d\u0438\u0435 \u0430\u043d\u0435\u0443\u043f\u043b\u043e\u0438\u0434\u0438\u0439 \u0443 \u043f\u043b\u043e\u0434\u0430 (NIFTY)<\/a>\r\n
\r\n \u0426\u0435\u043d\u0430<\/span>\r\n 16200 lei<\/span>\r\n <\/div>\r\n
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<\/div><\/a>\r\n <\/div>\r\n <\/div>\r\n <\/div>\r\n \r\n <\/div>\r\n<\/div>\r\n\r\n