Ifomu elingajwayelekile futhi elingaba nesibindi sesifo
I-Down syndrome , eyaziwa nangokuthi i-trisomy 21, isifo sofuzo esibangelwa ukuba khona kwekhophi ye-chromosome eyaziwa ngokuthi i-chromosome 21. Lokhu kuvame ukubizwa ngokuthi i-trisomy egcwele 21.
Lokho abantu abaningi abangaqapheli ukuthi kukhona enye, engavamile, ifomu le-disorder ebizwa ngokuthi i- mosaic Down syndrome ebonwe phakathi kwamaphesenti amabili kuya ku-4 amaphesenti kuwo wonke amacala.
Akuyona nje imbangela ehlukile kweyomuthi ogcwele we-trisomy 21, kungabangela ukuhlukahluka kwezici ezijwayelekile ze-Down syndrome.
Indlela uMoseic Down Syndrome ehlukana ngayo
Ngenkathi imizimba yethu iqukethe izinhlobo eziningi zamaseli ahlukile, ngalinye lala maseli livela kulesoqanda elilodwa, elibizwa ngokuthi i-zygote. I-zygote iqala njengelinye iseli, lapho likhulelwa, liziphindaphinda ngokuphindaphindiwe ukuze lidale amangqamuzana namathishlo asemzimbeni wethu.
Nge-trisomy egcwele 21, iphutha livela ku-chromosome yeqanda noma i-sperm cell njengoba bejoyina ukuba babe yi-zygote. Ngenxa yokuthi leli phutha lwenzeka ekuqaleni kokuthuthukiswa, wonke amaselula avela kule zygote azoba ne-chromosome eyengeziwe engu-21.
Nge-trisomy 21 yama-mosaic, iphutha livela emva kokukhulelwa lapho ukuhlukaniswa kweseli sekuqalile kakade. Ngenxa yalokho, abantu abane-Down syndrome babe nemigqa emibili ehlukene yeselula: enye nenombolo evamile yama-chromosomes enye enye ene-chromosome eyengeziwe 21.
Ukuxilongwa
I-Mosaic Down syndrome ivame ukutholakala noma ukuhlolwa kwegazi ngesikhathi sokuzalwa noma ngokusebenzisa i-amniocentesis noma i-chorionic sampling sampling (CVS) eyenziwe ngesikhathi esithile ngesikhathi sokukhulelwa.
Ngenkathi yalezi zinqubo, kuhlaziywa ukubalwa inani lama-chromosomes ezinhlobo ezingafani ezingama-20 ezihlukile.
Lokhu kuhlaziywa kungaba kokubili ukukhomba i-Down syndrome nokuxilonga ukuthi yiluphi uhlobo lwe-Down syndrome umntwana onalo.
Izinhlobo zihlukaniswa kanje:
- Ngo-trisomy 21 ephelele, zonke izinhlobo ze-cell zizoba ne-chromosome eyengeziwe 21. Ngakho esikhundleni sokuthola ama-chromosomes ajwayelekile angu-46 esitokisini esisodwa, singathola 47.
- Ngokuphambene nalokho, uma izinhlobo ezimbili noma ngaphezulu zeseli zivamile futhi ezinye zine-chromosome eyengeziwe 21, singaqinisekisa ukuthi ingane ine-syndrome ye-mosaic Down.
Ezinganeni ezine-mosaic Down syndrome, izinga lokuhluka kwe-chromosomal lingase lihluke. Ochwepheshe be-Chromosomal, okuthiwa i-cytogeneticists, ngokuvamile bazochaza lezi zinguquko ngokwemali yephesenti.
Isibonelo, uma i-cytogeneticist ibala amangqamuzana angu-50 ahlukene, okuyishumi lawo anomzila weselula ovamile futhi angu-40 anayo i-chromosome eyengeziwe engu-21, uzobika ukuthi izinga "lobuciko" lingu-80%.
Ukuze ucindezele izindaba ngisho nangaphezulu, iphesenti yokukhipha imidwebo ingahlukahluka kwesinye isisindo somzimba kuya kwesinye, abanye babe namazinga aphezulu okubonisa ubuciko futhi abanye bancane.
Ukuhluka kwezici
Ukukholelwa koMose akusho ukuthi kuguquke ekuhlukeni kwezici zesifo. Kungenxa yokuthi amazinga okubonisa ubuciko angahlukana phakathi kwabantu-ngisho namaseli angaphakathi kwalabo bantu-ukubonakaliswa kobuciko bokungafani nakho kungahlukahluka.
Ngenxa yalokho, abantu abane-mosaic Down syndrome bangakwazi ukuba nazo zonke izici ze-trisomy egcwele 21, azikho ezinye izici, noma ziwe ndawo phakathi. Eqinisweni, cishe amaphesenti angu-15 abantu abatholwa ukuthi bane-trisomy egcwele 21 I-Down syndrome iye yahlukunyezwa futhi impela ibe ne-Down syndrome.
Njengoba kungenakwenzeka ukubikezela izici zobuciko bokubukeka komzimba, kubalulekile ukuthi ingane yakho ithole ukunakekelwa okufanayo kwezokwelapha njengezingane ezine-trisomy egcwele 21. Ukunakekelwa okuqhubekayo kungasiza ekuboneni ukuthuthukiswa kokukhubazeka futhi kukuvumela ukuba wenze izinqumo ezifanele futhi uthole izinsizakalo ukusekela kangcono ingane yakho njengoba ekhula.
> Imithombo:
> Amasevisi Okulawula Nokuvimbela Izifo (CDC). Amaqiniso Nge-Down Syndrome. Kubuyekezwe ngomhla ka-3 Mashi, 2016.
> International Mosaic Down Syndrome Association. Imibuzo ye-FAQ / MDS.