{"id":2763,"date":"2023-01-20T10:42:44","date_gmt":"2023-01-20T09:42:44","guid":{"rendered":"https:\/\/trisomytest.sk\/?page_id=2763"},"modified":"2023-01-20T10:42:44","modified_gmt":"2023-01-20T09:42:44","slug":"chromozomalni-poruchy","status":"publish","type":"page","link":"https:\/\/trisomytest.sk\/cs\/chromozomalni-poruchy\/","title":{"rendered":"Chromozom\u00e1ln\u00ed poruchy"},"content":{"rendered":"

Chromoz\u00f3mov\u00e9 poruchy<\/strong><\/p>\n<\/div><\/div>

\"\"<\/div><\/div>
\"\"<\/div><\/div>
\"\"<\/div><\/div><\/div><\/div><\/div><\/div><\/section>

Pr\u00edbeh DNA<\/h3>\n<\/div><\/div>

Dedi\u010dn\u00e1 inform\u00e1cia \u010dloveka je zap\u00edsan\u00e1 do chemick\u00e9ho jazyka deoxyribonukleovej kyseliny (DNA). DNA je ulo\u017een\u00e1 v \u0161trukt\u00farach bunkov\u00e9ho jadra, v chromoz\u00f3moch. Jadro zdravej bunky \u010dloveka obsahuje 46 chromoz\u00f3mov usporiadan\u00fdch v p\u00e1roch (23 poch\u00e1dza od otca a 23 od matky). Na u\u013eah\u010denie identifik\u00e1cie sa jednotliv\u00e9 chromoz\u00f3mov\u00e9 p\u00e1ry ozna\u010duj\u00fa \u010d\u00edslami od 1 do 22. Posledn\u00fd p\u00e1r chromoz\u00f3mov tvoria pohlavn\u00e9 chromoz\u00f3my. S\u00fa ozna\u010dovan\u00e9 ako X a Y. Ak je pr\u00edtomn\u00e1 dvojica XX, ide o \u017eensk\u00e9 pohlavie, v pr\u00edpade jedinca mu\u017esk\u00e9ho pohlavia nach\u00e1dzame dvojicu XY.<\/p>\n<\/div><\/div><\/div><\/div>

V zdravej bunke sa nach\u00e1dza 46 chromoz\u00f3mov usporiadan\u00fdch v p\u00e1roch. Niekedy v\u0161ak pr\u00edde k n\u00e1hodnej chybe delenia a namiesto dvojice chromoz\u00f3mov je pr\u00edtomn\u00e1 trojica, vtedy hovor\u00edme o triz\u00f3mii alebo chromoz\u00f3m v p\u00e1re ch\u00fdba a vtedy hovor\u00edme o monoz\u00f3mii. Ak\u00e1ko\u013evek zmena po\u010detnosti chromoz\u00f3mov m\u00f4\u017ee ma\u0165 v\u00e1\u017eny vplyv na \u010fal\u0161\u00ed v\u00fdvoj plodu. Podobne m\u00f4\u017ee pri n\u00e1hodnej chybe d\u00f4js\u0165 k strate (del\u00e9cii) alebo zmno\u017eeniu (duplik\u00e1cii) \u010dasti chromoz\u00f3mu sp\u00f4sobuj\u00fac tak subchromoz\u00f3mov\u00fa aber\u00e1ciu.<\/p>\n<\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/section>

\"\"<\/div><\/div><\/div><\/div><\/div><\/div><\/section>

Triz\u00f3mia – n\u00e1hodn\u00e1 chyba delenia<\/h3>\n<\/div><\/div>

Triz\u00f3mie nie s\u00fa genetick\u00e9 poruchy s rodinn\u00fdm v\u00fdskytom zdeden\u00e9 po predkoch. Takmer v\u017edy ide o nov\u00fa chybu, ktor\u00e1 vznikne v prv\u00fdch f\u00e1zach v\u00fdvinu embrya. Riziko vzniku triz\u00f3mi\u00ed st\u00fapa s vekom matky. Najzn\u00e1mej\u0161ou triz\u00f3miou je triz\u00f3mia 21, sp\u00f4sobuj\u00faca tzv. Downov syndr\u00f3m. Podstatne zriedkavej\u0161ie s\u00fa triz\u00f3mia 18 (Edwardsov syndr\u00f3m) a triz\u00f3mia 13 (Patauov syndr\u00f3m). Poruchy po\u010dtu pohlavn\u00fdch chromoz\u00f3mov X a Y patria medzi \u010dast\u00e9. Ich riziko vy\u0161etruje TRISOMY test XY.<\/p>\n<\/div><\/div><\/div><\/div>

[vc_raw_html]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[\/vc_raw_html]<\/div><\/div><\/div><\/div><\/section>

Ktor\u00e9 chromoz\u00f3mov\u00e9
\nporuchy vy\u0161etrujeme?<\/h3>\n<\/div><\/div>

Chromoz\u00f3mov\u00e9 poruchy m\u00f4\u017eu sp\u00f4sobi\u0165 ve\u013ek\u00e9 mno\u017estvo ochoren\u00ed s v\u00e1\u017enym klinick\u00fdm obrazom a zlou progn\u00f3zou. Na\u0161e testy vy\u0161etruj\u00fa naj\u010dastej\u0161ie z nich.<\/p>\n<\/div><\/div>