Chizoloŵezi chosavuta komanso chodziwika bwino cha matendawa
Matenda otchedwa Down syndrome , omwe amatchedwanso trisomy 21, ndi matenda a chibadwa chifukwa cha kukhalapo kwa chromosome yowonjezera yotchedwa chromosome 21. Izi nthawi zambiri zimatchedwa trisomy 21.
Chimene anthu ambiri sazizindikira ndi chakuti pali vuto linalake lachilendo chotchedwa mosaic Down syndrome lomwe limapezeka pakati pa 2 peresenti ndi 4 peresenti ya milandu yonse.
Si chifukwa chokhacho chosiyana ndi cha trisomy 21, chonsecho chingapangitse kusiyana kwa zizindikiro za matenda a Down syndrome.
Mmene Mosavuta Matenda Amasiyana
Pamene matupi athu ali ndi mitundu yambiri ya maselo, maselo onsewa amachokera ku dzira lokha limodzi, lomwe limatchedwa zygote. Zygote imayambira ngati selo imodzi yomwe, pa umuna, imadzibwereza yokha mobwerezabwereza kuti apange maselo osiyanasiyana ndi matenda a thupi lathu.
Ndi trisomy 21 yokwanira, cholakwika chimapezeka mu chromosome ya dzira kapena umuna wa umuna pamene iwo akujowina kuti akhale zygote. Chifukwa cholakwika ichi chimachitika pachiyambi cha chitukuko, selo lirilonse limene limachokera ku zygote lidzakhala ndi kromosome yowonjezera 21.
Ndi trisomy 21 ya zojambulajambula, zolakwika zimachitika pambuyo pa umuna pamene magawano a selo ayamba kale. Zotsatira zake, anthu omwe ali ndi matenda otchedwa Down syndrome ali ndi mizere iwiri yosiyana: maselo omwe ali ndi kachilombo ka chromosome ndipo wina ali ndi chromosome yowonjezera 21.
Kudziwa
Malamulo a Mosaic Down amadziwika kuti ndi oyezetsa magazi panthaŵi yomwe wabadwa kapena kudzera mu amniocenteis kapena chorionic villus (CVS) yomwe inkachitika nthawi yomwe mayiyo ali ndi pakati.
Potsatira njirazi, kufufuza kumachitidwa kuti muwerenge chiwerengero cha ma chromosomes mu mitundu pafupifupi 20 ya selo.
Kusanthula kumeneku kungathe kuzindikira matenda a Down syndrome ndikuzindikira mtundu uti wa Down syndrome mwanayo.
Mitunduyi imasiyanitsidwa motere:
- Mu trisomy 21 mokwanira, mitundu yonse ya maselo idzakhala ndi chromosome yowonjezera 21. Choncho mmalo mopeza ma chromosomes osiyana 46 mu selo limodzi, tingapeze 47.
- Mosiyana ndi zimenezo, ngati maselo awiri kapena angapo ali achilendo ndipo ena ali ndi chromosome yowonjezera 21, tikhoza kutsimikizira kuti mwanayo ali ndi matenda a mtima.
Makanda omwe ali ndi mazenera a pansi, matenda a chromosomal akhoza kusiyana. Akatswiri a Chromosomal, otchedwa cytogeneticists, nthawi zambiri amafotokoza kusiyana kumeneku ponena za mtengo wa peresenti.
Mwachitsanzo, ngati cytogeneticist ili ndi maselo 50 osiyana, 10 omwe ali ndi mzere wathanzi komanso 40 omwe ali ndi chromosome yochulukirapo 21, iye anganene kuti mlingo wa "mosaicism" ndi 80 peresenti.
Kuti amvetsetse nkhani moonjezera, chiwerengero cha zojambulajambula chimatha kusiyana ndi minofu yotsatira, ndi ena omwe ali ndi maonekedwe apamwamba komanso ena ochepa.
Kusiyanasiyana kwa Zinthuzo
Mosaicism sikutanthauzira kusiyana kwa zochitika za matendawa. Chifukwa chakuti mausitimu amatha kusintha pakati pa anthu pawokha-ngakhale ngakhale maselo mwa anthu omwewo-kutchulidwa kwa zojambulajambula kungakhalenso kusiyana.
Choncho, anthu omwe ali ndi matenda otchedwa Down syndrome akhoza kukhala ndi ziwalo zonse za trisomy 21, zonsezi, kapena kugwa pakati. Ndipotu, pafupifupi 15 peresenti ya anthu omwe amapezeka kuti ali ndi trisomy yambiri 21 Matenda otchedwa Down syndrome asokonezedwa mosavuta ndipo ali ndi matenda otsekemera.
Ngakhale kuti simungathe kufotokoza zochitika za mosaicism, nkofunika kuti mwana wanu alandire chithandizo chomwecho monga ana omwe ali ndi trisomy yambiri 21. Kusamalira kosatha kungathandize kuzindikira chitukuko cha ulemala ndikukulolani kupanga chisankho chodziwitsidwa ndi kupeza ntchito kuti mumuthandize bwino mwana wanu akamakula.
> Zotsatira:
> Zomwe Zingathetsere Kudwala ndi Kuteteza Matenda (CDC). Zoona Zokhudza Down Syndrome. Kusinthidwa pa March 3, 2016.
> International Mosaic Down Syndrome Association. FAQ / Mfundo za MDS.