Chimwe chinhu chisinganyanyozivikanwi uye chingave chakaipa chechirwere
Down syndrome , inozivikanwawo se trisomy 21, inonzi genetic disorder inokonzerwa nekuvapo kwemamwe makopi echromosome anozivikanwa sechromosome 21. Izvi zvinowanzozonzi trisomy yakazara 21.
Zvinonyanya kuitwa navanhu vakawanda ndezvokuti pane imwe, yakawandisa, maitiro ehutano hunonzi " mosaic Down syndrome" inowanikwa pakati pe2 kusvika ku4 muzana yematambudziko ose.
Handizvo chete izvo zvinokonzera zvakasiyana nezvo trisomy yakakwana 21, zvinogona kuguma nekusiyana kwezvinhu zvinowanikwa neArt syndrome.
Maitiro aMosic Down Syndrome akasiyana sei
Kunyange zvazvo miviri yedu ine boka rakasiyana-siyana yemasero, rimwe nerimwe rezvikamu izvi rakabva kune imwechete, mazai asina kubereka, anonzi zygote. Iyo zygote inotanga semumwe sero iyo, pamusana pekuberekwa, inodzokorora pachedu zvakare kuti iumbe masero akasiyana-siyana nematumbu emuviri wedu.
Ne trisomy yakakwana 21, kukanganisa kunowanikwa mu chromosome yeii kana kuti sperm cell sezvavanosangana kuti vave zygote. Nemhaka yekuti iko kukanganisa kunoitika pakutanga kwekuvandudza, sero rimwe nerimwe rinouya kubva kune zygote richave nerimwe chromosome yakawedzerwa 21.
Nekrisic trisomy 21, iko kukanganisa kunoitika mushure mekusimudza kana kupatsanurwa kwemasero kwatotanga. Somugumisiro, vanhu vane mosaic Down syndrome vane miviri miviri yakasiyana-siyana: imwe ine nhamba yakawanda yekromosomes uye imwe ine chromosome yakawedzerwa 21.
Kuziva
Mosaic Down syndrome inowanzoonekwa kana kuongorora ropa panguva yekuberekwa kana kuburikidza ne amniocentesis kana chorionic villus sampling (CVS) yakaitwa imwe nguva panguva yekuzvitakura.
Mukati yemitambo iyi, kuongororwa kunoitwa kuti uverenge nhamba yekromosomes mune zvinenge makumi maviri zvemajeri akasiyana.
Kuongorora uku kunogona kutarisa Down syndrome uye kuongorora rudzi rwe Down syndrome mwana ane.
Mhando dzinosiyaniswa sezvinotevera:
- Muna trisomi yakakwana 21, yese yesero dzemhando dzichava nechimwe chromosome 21. Saka panzvimbo yekuwana maitiro akasiyana-siyana 46 akasiyana-siyana mune imwe sero, tinowana 47.
- Kusiyana neizvi, kana maviri kana kupfuura emasero aya akajairika uye vamwe vane chromosome yakawedzerwa 21, tinogona kusimbisa kuti mwana ane musikirwe Down syndrome.
Mucheche ane mavara Down syndrome, uwandu hwechromosomal kusiyana hunogona kusiyana. Chromosomal nyanzvi, dzinonzi cytogeneticists, kazhinji dzinotsanangura izvi kuchinja maererano nehuwandu hwehuwandu.
Somuenzaniso, kana cytogeneticist inosvika masero makumi mashanu akasiyana-siyana, gumi ayo ane chikamu chemasero ezvakanaka uye makumi mana ayo ane chromosome yakawedzerwa 21, iye angazozivisa kuti mukana we "mosaicism" ndiwo 80 muzana.
Kuita kuti nyaya dzirambe dzichiwedzera, chiyero chekunyora maitiro chinogona kusiyanisa kubva kune imwe yemaviri kuenda kune inotevera, uye vamwe vane mazinga akakwirira ekunyengera uye vamwe vane zvishoma.
Kusiyana kwezvinhu
Mosaicism haisi kureva kushandura kune kusiyana kwezvinhu zvechirwere. Nemhaka yokuti maitiro e-mosaicism anogona kusiyanisa pakati pevanhu-uye kunyange masero mukati memunhu iwoyo-kutaura kwemafiriki kunogonawo kusiyana.
Sezvo zvakadaro, vanhu vane mosaic Down syndrome vanogona kuva nezvinhu zvose zve trisomy yakakwana 21, hapana chimwe chezvinhu, kana kuwira pane imwe nzvimbo pakati. Kutaura zvazviri, vanenge 15 kubva muzana yevanhu vanoona kuti vane trisomy yakakwana 21 Down syndrome inenge isina kuongororwa uye yakanyatsove yakagadzikana neAlexic Down syndrome.
Sezvo zvisati zvisingakwanisi kufanotaura zviitiko zve mosaicism, zvakakosha kuti mwana wako anogamuchira kurapwa kwakafanana nevana vane trisomi yakakwana 21. Kuchengetedza kwakasimba kunogona kubatsira kujekesa kukura kwekuremara uye kukubvumira kuita sarudzo dzakagadziriswa uye kuwana hutano kuti utsigire mwana wako sezvaanokura.
> Sources:
> Centers for Disease Control and Prevention (CDC). Chokwadi NezveAndaneti Syndrome. Yakarongwa musi waMarch 3, 2016.
> International Mosaic Down Syndrome Association. FAQ / MDS Facts.