HROMOZOMSKE ABERACIJE KOD PAROVA SA STERILITETOM I HABITUALNIM POBAČAJIMA U UNIVERZITETSKOM KLINIČKOM CENTRU REPUBLIKE SRPSKE
DOI:
https://doi.org/10.7251/ASB220301023IKljučne reči:
hromozomske aberacije, inverzije, Klinefelterov sindrom, Daunov sindrom, mozaicizmiApstrakt
Citogenetička laboratorija Univerzitetskog kliničkog centra Republike Srpske u Banjoj Luci predstavlja primarnu instituciju u kojoj se analiziraju kariotipovi periferne krvi pacijenata. U periodu od 2009. do 2019. godine u njoj su urađene ukupno 3842 analize kariotipa pacijenata od kojih je 1956 imalo uputnu dijagnozu sterilitet i habitualni pobačaj pa samim tim i nemogućnost ostvarivanja trudnoće. Značaj citogenetičkih analiza kariotipova pacijenata je velik jer prisustvo hromozomskih aberacija u njima može da bude uzrok steriliteta i spontanih pobačaja kod pacijenata. Zato je cilj rada bio je da se utvrdi prisustvo hromozomskih aberacija u kariotipovima pacijenata na UKC RS koji su imali uputnu dijagnozu sterilitet ili habitualni pobačaj. Ukupan broj uzoraka obrađenih kariotipova pacijenata u Citogenetičkoj laboratoriji na UKCRS u Banjoj Luci u periodu od 2009. do 2019. godine rastao je po godinama. U studiji je utvrđena značajna razlika u raspodjeli učestalosti pacijenata sa dijagnozom steriliteta, kojih je bilo dva puta više u odnosu na pacijente sa dijagnozom habitualni pobačaj. Procenat pacijenata koji se liječe od steriliteta i habitualnog pobačaja sa prisustvom hromozomskih aberacija u njihovim kariotipovima u odnosu na one koji nemaju aberacije prosječno je nizak. Utvrđena je podjednaka raspodjela muških i ženskih pacijenata sa aberantnim kariotipovima, a koji su liječeni od steriliteta i habitulanih pobačaja. Najzastupljenije hromozomske aberacije u kariotipovima kako muških tako i ženskih pacijenata liječenih od steriliteta i habitualnog pobačaja bile su inverzije, nakon njih dolaze mozaične aberacije, translokacije, zatim slijede trizomije, Robertsonove translokacije i na kraju adicije.
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