Iingxaki ze-Chromosomal ziyimbangela eqhelekileyo yokulahleka kokuqala kokukhulelwa
Iingxaki ze-Chromosome, ezifana ne-Trisomy 22, ziyona nto ibangele ibanga eliqhelekileyo lokulahleka kwamathathu . Ngokuxhomekeka kweyiphi i-chromosome echaphazelekayo, i-chromosomes eyongezelelweyo okanye engekhoyo (okanye iindawo ze-chromosomes) inokubangela nantoni kwiinkalo zempilo ezincinane kwiimeko ezingahambelani nobomi. I-Trisomy 22 yenye yeengxaki ze- chromosome ezinzima.
Yiyiphi i-Trisomy 22 ithetha
I-Trisomy 22 ithetha ukuba umntu uneekopi ze-chromosome ezingama-22 endaweni yezikopi ezilindelekileyo ezimbini.
Isimo sinokugqiba (kuthetha ukuba zonke iiseli zomzimba zichaphazelekayo) okanye umzobo (oku kuthetha ukuba ezinye iiseli zithintekile kodwa kungabanye). Kwakhona kunokwenzeka ukuba ne-trisomy ye-22, ithetha iikopi ezipheleleyo ze-chromosome 22 kunye nekopi engaphelelwanga yecandelo kuphela le-chromosome.
Ukuxilongwa
I-Trisomy 22 inokufunyaniswa ngophando lwemizimba emva kokuphazamiseka komzimba okanye ukuzala. Ngomhla ingafunyanwa yi- CVS okanye i-amniocentesis, nangona iziphumo zokuvavanywa kwangaphambi kokubeletha zibonisa i-trisomy 22 ayisoloko ithetha ukuba umntwana uya kuthinteka kakhulu (jonga ngezantsi).
Imiphumo yeTrisomy epheleleyo 22
Gcwalisa i-trisomy 22 phantse njalo idala ukuhamba kwexesha lokuqala; loo mqathango ayihambelani nobomi kwaye akukho nhlobo yentsana ene-trisomy epheleleyo 22 ephila kwixesha elide. Abaphengululi bakholelwa ukuba i-trisomy 22 i-akhawunti ye-3 ukuya kwi-5 ekhulwini yabo bonke abasweleyo.
Impembelelo kaMoses Trisomy 22
Imiphumo ye-trisomy ye-mosaic 22 ingaba mnene kwabanye abantu kwaye ingathandeki kwabanye.
Sekunjalo ukuvavanywa kwangaphambi kokubeletha okufumana i-trisomy mosaic 22 ayikwazi ukuqikelela iziphumo. Uninzi olunabantwana abonakala ngathi bane-mosaic trisomy 22 kwi-amniocentesis okanye iziphumo zeCVS azikho iingxaki zempilo ezibonakalayo ekuzalweni; Iintsana ziqinisekisiwe ukuba zine-mosaic trisomy 22 ekuzalweni ziyakwazi ukufumana iingxaki zempilo.
Ukuba Umntwana Wakho Unayo I-Trisomy 22
Ukuba uye watshelwa ukuba umntwana oye waphazamiseka unesifo se-trisomy 22, qi ni sekise ukuba ukuphuphuma kwesisu akuzange kube yiphutha lakho kwaye akukho nto ongayenza ukuze uyiphephe. Ukukhulelwa okukodwa okuchaphazelekayo yi-trisomy 22 akuthethi ukuba unomngcipheko ophezulu we-trisomy 22 ekukhulelweni okuzayo. Kwiimeko ezininzi, iziphumo ze-trisomy 22 zivela kwiingxaki ezingenangxaki kwisahlulo seseli kwaye aziphindaphindi.
Ukuba ngaba ukhulelwe kwaye unayo i-CVS ebonisa i-trisomy 22, ingcamango enhle ukuthetha nomcebisi wezofuzo okanye ugqirha onguchwepheshe kwi-genetics. Amathuba aphantsi ukuba umntwana wakho unesifo esipheleleyo se-trisomy 22, kwaye kunokwenzeka ukuba umntwana wakho unomculo we-trisomy 22 okanye uhlobo lwe-trisomy 22 olukhoyo kuphela kwi-placenta.
Ugqirha wakho unokuncoma i-amniocentesis ukukhawulela ngakumbi imeko. Xa i-amniocentesis ingaqinisekisi i-trisomy, amathuba aphakamileyo ukuba i-trisomy ikhona kuphela kwi-placenta kwaye umntwana usuqhelo lwechromosom. Nangona kunjalo kukho ingozi eyongezelelweyo yokukhula kwe- intrauterine kunye nokukhulelwa kwengcinezelo ngenxa ye-placenta engavamile, kwaye unokufuna ukubeka esweni eseleyo ekuphumeni kwakho.
Ukuba i-amniocentesis iqinisekisa ubungqina bomntwana kumntwana, umcebisi wakho wezofuzo okanye enye ingcali ye-genetics ingakunika ulwazi olusisiseko malunga nento omele ulindele.
Umthombo
I-Trisomy 22 yobugcisa. KwiYunivesithi yaseBritish Columbia. Kufumaneka: kuMatshi 14, 2009.