Trisomy 21

Trisomy on 21 chromosomes ba kome ba sai Down Down syndrome (ciwo). Wannan ilimin cututtuka ne chromosomal kuma an hade shi, da farko, tare da cin zarafi na al'amuran al'ada na tsarin fission, da kwayoyin halitta na jima'i. A sakamakon haka, an kafa karin chromosomes 21.

Cikakosomosu 21 suna da wuya. Bisa ga bayanan kididdiga, an lura da irin wannan hali 1 lokacin haihuwa na 600-800. A daidai wannan lokacin, an tabbatar da cewa yawan ci gaba na ilimin lissafi na girma tare da karuwa a cikin shekarun da mace take ciki.

Mene ne dalilai na ci gaba da nakasar chromosomes 21?

Don fahimtar abin da ake nufi da chromosomes 21, ya zama dole a san abubuwan da ke faruwa da kuma siffofin wannan pathology. Har zuwa yanzu, babu wani dalili na musamman don bunkasa pathology. Yawancin masana kimiyya sun yanke shawarar cewa cutar ta auku ne sakamakon yawancin hulɗar tsakanin kwayoyin halitta, wanda hakan ya haifar da samuwa. A wannan yanayin, kwayoyin halitta sun zama masu aiki. A sakamakon rashin daidaituwa, rashin cigaba da ci gaba da kwayar halitta, musamman yanayin jin dadi, an rushe shi. Daga cikin kwayoyin 400 da aka samo a cikin 21 chromosomes, ba a kafa aikin mafi rinjaye ba, wanda ya sa ya wuya a gano dalilin.

Abin sani kawai, watakila, yayi nazarin lamarin haɗari don ci gaban cutar shine shekarun iyaye. Saboda haka, a lokacin bincike, an gano cewa a cikin mata masu shekaru ashirin da biyar na yiwuwar samun yarinya tare da Down syndrome ne 1/1250, ta hanyar shekaru 35 - 1/400, kuma daga cikin shekaru 45 da haihuwa daga cikin 30 haifaffen yara suna da wannan alamun. A lokaci guda, yiwuwar samun ɗa tare da wannan ciwo a cikin iyaye da irin wannan pathology shine 100%. Duk da haka, idan an haifi yaro tare da Down ta ciwo a cikin iyayen kirki, yiwuwar samun ɗa na biyu tare da irin wannan nau'i ne 1%.

Yaya aka gano cututtuka?

Don kawar da rashin ciwo da kuma abin da ya faru na chromosomes 21 a cikin mata masu ciki, ana nuna cewa ana nunawa a farkon farkon watanni na kowane ciki da aka lura. A lokaci guda kuma, ya gudanar da binciken don ware jigilar jiki ga 13 da 18 chromosomes. Don yin wannan, an samo samfurin samfurin a cikin tazarar makonni 10-13. An samo samfurin na kwayar halitta a cikin na'urar ta musamman, ta hanyar da aka gano magungunan pathology.

Don nunawa na tarkon jiki 21, saboda sakamakon da ya dace, ana nuna alamomi na al'ada, da kuma abubuwan da ba a kula da su ba kamar shekaru, nauyin, yawan tayi, da kasancewa ko rashin halaye mara kyau, da dai sauransu.Bayan bayan gudanar da cikakken nazarin da lissafin hadarin haɓaka tasowa. shawarwari shawara tare da masanin ilimin likitancin mutum.

Duk da haka, kawai sakamakon wannan binciken ba zai iya kasancewa muhimmin mahimmanci don bincikar ciwo na Down. Sakamakon gwaje-gwaje na nuni ne don ƙarin jarrabawar tayin ta amfani da hanyoyi masu ɓarna. Idan akwai haɗarin haɗarin ilimin bunkasa bunkasa, an yi amfani da takalmin katako, da kuma amniocentesis tare da nazarin kwayoyin abin da aka tattara.

Yaushe kuma wane ne aka nuna?

A yadda aka saba, ana gudanar da bincike ga nakasoshin chromosomes 21 a cikin 1-farkon watanni, musamman a makonni 10-13. Nunawa ga halinsa shine kasancewar wadannan abubuwan haɗari:

• shekarun mace mai ciki yana da shekaru 35 da haihuwa;
• kasancewa a cikin magunguna na mummunan rikitarwa, kazalika da ciki ba tare da anyi ba;
• ilimin cututtuka na chromosomal, da magungunan haihuwa a cikin ciki na baya;
• kasancewar a cikin iyali na cututtuka masu juna biyu masu juna biyu;
• daban-daban cututtukan cututtuka, radiation radiation, kazalika da liyafar a farkon matakai na daukar ciki da kwayoyi tare da sakamako mai teratogenic.