Ifomu engaphantsi kunye neyobunzima yentleba
I-Down syndrome , eyaziwa nangokuthi i-trisomy 21, yintlupheko yesifo esibangelwa ubukho bekopi ye-chromosome ebizwa ngokuba yi-chromosome 21. Le nto idla ngokubizwa ngokuba yi-trisomy epheleleyo 21.
Into eninzi abantu abangayiqondiyo yokuba kukho enye, engavamile, uhlobo lwesifo esibizwa ngokuba yi- mosaic Down syndrome ebonwa phakathi kweepesenti ezi-2 ukuya kuma-4 ekhulwini kuwo onke amacala.
Hayi kuphela imbangela eyahlukileyo kwi-trisomy epheleleyo 21, inokubangela ukuhluka kwizinto eziqhelekileyo ze-Down syndrome.
Indlela iMosesic Down Syndrome eyahluke ngayo
Nangona imizimba yethu iqulethe iindidi ezahlukeneyo zeeseli, ngasinye nesinye sala maseli zivela kwinto enye, iqanda elilodwa elinomhlaza, elibizwa ngokuba yi-zygote. I-zygote iqala njengeseli enye leyo, xa ikhulelwa, iphindaphinda ngokuphindaphindiweyo ukudala iiseli ezahlukeneyo kunye nezicubu zomzimba wethu.
Nge-trisomy epheleleyo 21, ikophu ivela kwi-chromosome yeqanda okanye i-cell cell njengoko zijoyina ukuba zibe zygote. Ngenxa yokuba le mpazamo yenzeka ekuqaleni kokuphuhliswa, yonke iseli evela kule zygote iya kuba neyongezelelweyo ye-chromosome 21.
Nge-trisomy mosaic 21, iphutha livela emva kokuqumba xa isahlulo seseli sele siqalile. Ngenxa yoko, abantu abanesifo se-Down syndrome banemigca yesibini ehlukeneyo: enye kunye nenani eliqhelekileyo lama-chromosomes kunye nelinye nge-chromosome eyongezelelweyo 21.
Ukuxilongwa
I-Mosaic Down syndrome ivame ukufunyanwa okanye kuhlolwa kwegazi ngexesha lokuzalwa okanye nge-amniocentesis okanye i-chorionic sillling (CVS) eyenziwa ngethuba lokukhulelwa.
Kule nkqubo, uhlalutyo lwenziwe ukubala inani lama-chromosomes malunga nama-20 eeseli ezahlukeneyo.
Olu hlalutyo luyakwazi ukuchonga i-Down syndrome kwaye uhlolisise uhlobo luni lwe-Down syndrome umntwana.
Iintlobo zahluke ngokwahlukileyo:
- Kwi-trisomy epheleleyo 21, zonke iintlobo zeeseli ziya kuba ne-chromosome eyongezelelweyo 21. Ngoko endaweni yokufumana i-chromosomes eziqhelekileyo ezingama-46 kwiselinye esisodwa, siya kufumana 47.
- Ngokwahlukileyo, ukuba ezimbini okanye ezininzi zeentlobo zeseli ziqhelekileyo kwaye ezinye zine-chromosome eyongezelelweyo 21, sinokuqinisekisa ukuba umntwana unesifo sengqondo somzimba.
Kwiintsana ezine-Down syndrome, izinga le-chromosomal variation lingahluka. Iingcali ze-Chromosomal, ezibizwa ngokuthi i-cytogeneticists, ziya kuthi zichaze ezi zintlupheko ngokwexabiso leepesenti.
Ngokomzekelo, ukuba i-cytogeneticist inamaqela ahlukeneyo angama-50, anama-10 ayenomgca weselfowuni oqhelekileyo kunye ne-40 apho ine-chromosome eyongezelelweyo 21, uya kuthi ingxelo "i-mosaicism" ingama-80 ekhulwini.
Ukunyanzela izinto ngakumbi, ipesenteji ye-mosaic iyakwazi ukuhluka kwimihlobo eyodwa yesikhumba ukuya kwesinye, kunye nabanye banamazinga aphakamileyo obugqithisileyo kunye nabanye abanomncinci.
Utshintsho kwiiMpawu
I-Mosaicism ayiguquleli kwizinto ezahlukileyo kwiimpawu zesifo. Kungenxa yokuba amanqanaba okuguqulwa komzimba ahlukahluka phakathi kwabantu-kwaye kunye neeseli ngaphakathi kwabo bantu-ukubonakaliswa kobugcisa buyahlukahluka.
Ngaloo ndlela, abantu abane-syndrome ye-mosaic bangaba nayo yonke impawu ye-trisomy egcweleyo 21, ayikho enye impawu, okanye iwele phakathi. Enyanisweni, malunga neepesenti ezili-15 zabantu abaxilongwa nge-trisomy epheleleyo 21 I-Down syndrome ayifumanwanga kakuhle kwaye impela i-syndrome ye-mosaic.
Njengoko kungenakwenzeka ukuba uqikelele iimpawu zobugcisa, kubalulekile ukuba umntwana wakho ufumane unyango olufanayo olufana nezingane ezine-trisomy epheleleyo 21. Unonophelo oluqhubekayo lunokukunceda ukufumanisa ukuphuhliswa kokukhubazeka kwaye kukuvumela ukuba wenze ukhetho olululo kwaye ufumane iinkonzo ukuxhasa umntwana wakho xa ekhula.
> Imithombo:
> Amasebe okuLawula nokuVimbela (iCCDC). Iinkcukacha Nge-Down Syndrome. Ukuhlaziywa kweyoKwindla 3, 2016.
> International Mosaic Down Syndrome Association. Imibuzo ye-FAQ / MDS.