Siyazi ukuthi imizimba yethu yakhiwe ngamaseli ayizigidigidi. Ngokuvamile sicabanga ukuthi ngalinye lala maseli linesethi efanayo yolwazi lwezakhi zofuzo, njengamakhophi amaningi epulani efanayo. Kodwa ngezinye izikhathi lokhu kungaba okuhlukile kancane. Cabanga ukuthi amanye amangqamuzana emzimbeni wakho anepulani efanayo yezakhi zofuzo, kanti amanye amangqamuzana anepulani ehlukile kancane yezakhi zofuzo. Yilokho esikubiza ngokuthi i-mosaicism kwezokwelapha.
Kalula nje, kuyini i-Mosaicism?
Kalula nje, i-Mosaicism ukuba khona kwamaqembu amabili noma ngaphezulu ahlukene ngofuzo amangqamuzana emzimbeni womuntu oyedwa. Lokhu kufana nobuciko be-mosaic. Njengoba nje amathayili amancane anemibala nezimo ezahlukene ehlangana ukuze adale isithombe esihle, okwenzekayo lapha ukuthi amangqamuzana anezakhi zofuzo ezahlukene ahlangana ukuze akhe umzimba owodwa.
Isibonelo esihle salokhu umehluko enanini lama-chromosome. Umuntu ophilile unama-chromosome angu-46 kuseli ngalinye. Kodwa-ke, kumuntu one-mosaicism, amanye amaseli anama-chromosome angu-46, kanti elinye iqembu lamaseli lingase libe nenombolo ehlukile, njengama-chromosome angu-47 noma angu-45. Lo mehluko wezakhi zofuzo ungabangela izinkinga ezithile zempilo ekuzalweni, futhi ngezinye izikhathi izinkinga kamuva ekuphileni.
Yiziphi izifo ezingahlotshaniswa ne-mosaicism?
I-mosaicism ingadala izifo ezahlukahlukene. Kodwa imiphumela yalokhu iyahlukahluka kakhulu kumuntu nomuntu. Kuncike kumaphesenti amaseli angajwayelekile emzimbeni nokuthi lawo maseli atholakala kuziphi izitho zomzimba. Ake sibheke ezinye zezifo eziyinhloko ezihlobene nalokhu.
| Isimo | Umthelela kanye nezici ezivamile |
|---|---|
| I-Mosaic Down syndrome | Lolu uhlobo lwe-Down syndrome. Lungabangela ukukhubazeka kwengqondo, ubuthakathaka bemisipha, kanye nobuso obuyisicaba. Ezinye izingane zingase zibe nesifo senhliziyo, izinkinga zokugaya ukudla, kanye nezinkinga ze-thyroid. |
| I-Pallister-Killan mosaic syndrome | Ngisho nakulesi simo, kubonakala ubuthakathaka bemisipha, ukubambezeleka kwengqondo, izinwele ezinciphile, ukuguquka kwesikhumba okungajwayelekile, kanye nezinye izinkinga zokuzalwa. |
| I-SOX2 anophthalmia syndrome | Lesi yisimo esingavamile kakhulu esingabangela izinkinga ezinkulu njengokuzalwa komntwana engenamehlo, ukuxhuzula, izinkinga zokukhula kobuchopho, kanye nokukhula ngokomzimba okulibazisekile. |
| I-Trisomy 18 (i-Mosaic) | Lesi yisimo lapho ukukhula komntwana kubambezeleka khona esibelethweni. Ingane ingazalwa inekhanda elincane kunejwayelekile, ukukhubazeka kwenhliziyo, kanye nezinye izinkinga zezitho zomzimba. Ngeshwa, izingane eziningi ezinalesi simo aziphili ngaphezu konyaka wazo wokuqala. |
Ngaphezu kwalokho, i-mosaicism ingase ihlotshaniswe nezinye izinkinga ze-chromosome, njenge-Turner syndrome, kanye nezinye izinhlobo zomdlavuza, ikakhulukazi umdlavuza wegazi.
Kungani lesi simo senzeka?
Empeleni lokhu kwenzeka kakhulu ngengozi. Lokhu akubangelwa yiphutha lomuntu. Cabanga nje, ngemva kokuba iqanda likamama livundiswe yisidoda sikababa, iseli lokuqala (i-zygote) elakhekayo liqala ukuhlukana. Ngale ndlela, njengoba iseli elilodwa lihlukana libe yizimbili, ezimbili, ezine, ezine, eziyisishiyagalombili, njll., umbungu uyakhula.
Phakathi nalokhu kuhlukaniswa kwamaseli, iseli ngalinye elisha kumele lithole ikhophi eqondile yama-chromosome eseli lokuqala. Kodwa akuvamile kakhulu, iphutha lingenzeka phakathi nale nqubo yokukopisha. Iphutha lingabangela iseli elisha ukuthi libe nenani elihlukile lama-chromosome. Lapho iseli elinephutha liqhubeka nokuhlukana, umzimba ukhiqiza isizukulwane samaseli anezakhi zofuzo ezingavamile. Amaseli okuqala, anempilo nawo ayaqhubeka nokuhlukana, kangangokuthi ekugcineni umzimba uba namasethi amabili amaseli.
- I-mosaicism esezingeni eliphezulu: Uma lesi sici senzeka kusenesikhathi ekukhuleni kombungu, iphesenti elikhulu (50% noma ngaphezulu) lamaseli angajwayelekile lisakazeka emzimbeni wonke.
- I-mosaicism esezingeni eliphansi: Uma iphutha livela esigabeni esilandelayo sokuthuthukiswa, inani lamaseli athintekile lincane.
Ingabe zikhona izinhlobo eziyinhloko ze-mosaicism?
Yebo, i-Mosaicism ingahlukaniswa ngezinhlobo eziningana eziyinhloko. Ukuqonda lokhu kungakusiza ukuthi uqonde kangcono uhlobo lwesimo.
| Ukuhlukaniswa | Incazelo elula |
|---|---|
| Kuye ngohlobo lweseli elithintekile | |
| UbuMosaic beSomatic | Lapha, ushintsho lwezakhi zofuzo lutholakala kuphela kumaseli ajwayelekile omzimba (amaseli omzimba). Okusho ukuthi, amaseli ezitho ezifana nesikhumba, ubuchopho, nenhliziyo. Okubalulekile, lesi simo asithinti amaseli okuzala (amaqanda kanye nesidoda), ngakho-ke asizuzwa njengefa kubazali kubantwana. |
| Ubuciko be-Germiline Mosaicism | Ushintsho lwezakhi zofuzo lutholakala kuphela kumaseli e-germline, okungukuthi, emaqandeni noma esidoda. Ngakho-ke, noma ngabe abazali abanazo izimpawu, izingane zabo zisengozini yokuthola lesi simo sezakhi zofuzo. |
| Ngokusho kokusabalala komzimba | |
| Ubuciko Obuvamile Bokuzenzisa | Lapha, amangqamuzana angavamile akhona kuwo wonke umzimba wengane. |
| UbuMosaic obuvinjelwe | Lapha, amangqamuzana angavamile awatholakali kuwo wonke umzimba, kodwa anqunyelwe esithweni esithile noma izicubu, njengobuchopho, inhliziyo, noma isibindi. Isibonelo, kukhona isimo esibizwa ngokuthi i-Confined Placental Mosaicism, esinqunyelwe ku-placenta. |
Odokotela bakuthola kanjani lokhu?
Kudingeka ukuhlolwa okukhethekile kwezakhi zofuzo ukuze kutholakale i-mosaicism.
- Ukuxilongwa Kwangaphambi Kokubeletha: Uma kukhona ukusola ukuthi ingane ine-Mosaicism ngesikhathi sokukhulelwa, odokotela bangase batuse ukuhlolwa okukhethekile. I-Amniocentesis (ukuhlola uketshezi lwe-amniotic oluzungeze ingane) kanyeUkuhlola i-Chorionic Villus Sampling (CVS) (ukuhlola ingxenye encane yezicubu ezivela ku-placenta) kungenye yezivivinyo ezinjalo.
- Ukuhlolwa Kwangemva Kokubeletha: Ngemva kokuzalwa komntwana, lesi simo singatholakala ngokuhlolwa kwegazi, ukuhlolwa kwesikhumba, njll. Ngezinye izikhathi, kungadingeka ukuhlola izinhlobo ezimbili ezahlukene zezicubu ukuqinisekisa isimo esiqondile.
Ikakhulukazi ezindleleni ezifana nokukhulelwa kwe-in-vitro (IVF), kungenzeka ukuhlola amaphutha ofuzo ngokuhlola okubizwa ngokuthi i-Preimplantation Genetic Screening (PGS) ngaphambi kokuba umbungu ufakwe esibelethweni sikamama.
Ingabe ikhona indlela yokwelapha i-mosaicism?
Lena inkinga abantu abaningi abanayo. Eqinisweni, okwamanje ayikho indlela yokuguqula noma yokwelapha isimo esiyisisekelo sezakhi zofuzo esibizwa ngokuthi i-Mosaicism. Okusho ukuthi, akunakwenzeka ukuqeda amangqamuzana angajwayelekile bese uwafaka esikhundleni sawo amangqamuzana avamile.
Kodwa, okubaluleke kakhulu, kunezindlela ezahlukene zokuphatha nokwelapha izinkinga zempilo kanye nezimpawu ezibangelwa yi-Mosaicism.
Izinketho zokwelapha zincike esimweni esithinta umuntu ngamunye. Isibonelo, ingane ene-Mosaic Down syndrome ingazuza ekwelashweni kwenkulumo kanye ne-physiotherapy ukuze imsize athuthukise futhi athuthukise amakhono akhe. Uma kukhona isifo senhliziyo, ukwelashwa kunikezwa ukubhekana nembangela eyinhloko. Lokhu kusho ukuthi ukwelashwa akuhloselwe i-Mosaicism, kodwa kuhloswe ngemiphumela yalesi simo. Kubalulekile ukukhuluma nodokotela wakho mayelana nohlelo lokwelashwa olungcono kakhulu kuwe noma enganeni yakho.
Liyoba njani ikusasa ngalesi simo?
Kunzima ukubikezela ukuthi umuntu one-mosaicism uzokwenzenjani, njengoba kuncike ezintweni eziningi. Eziyinhloko zifaka:
- Liyini iphesenti lamaseli angajwayelekile? (Iphesenti lamaseli angajwayelekile)
- Yiziphi izitho/izicubu ezithintekile?
- Ubunzima besimo esihambisanayo.
Umuntu onephesenti eliphansi kakhulu lamaseli angajwayelekile (i-mosaicism esezingeni eliphansi) angaphila impilo enempilo ngokuphelele ngaphandle kwezimpawu. Omunye umuntu angase abe nezinkinga ezincane. Uma iphesenti lamaseli angajwayelekile liphezulu futhi izitho ezinkulu njengobuchopho nenhliziyo zithintekile, izinkinga zinganda.
Ngakho-ke, kunokuba wesabe ngokungadingekile ngalokhu, kubaluleke kakhulu ukubona uchwepheshe, uthole ukwelulekwa ngofuzo , futhi uthole ukuqonda okucacile ngesimo sakho noma sengane yakho.
Umlayezo Wokuya Nawe Ekhaya
- I-Mosaicism ukuba khona kwamaqembu angaphezu kwelilodwa ahlukene ngofuzo emzimbeni womuntu ofanayo.
- Lokhu akulona iphutha lanoma ubani, kodwa iphutha elingahleliwe elenzeka ngesikhathi sokuhlukaniswa kwamaseli ngesikhathi sokuqala kokukhula kombungu.
- Imiphumela ye-mosaicism iyahlukahluka kakhulu kumuntu nomuntu. Abanye bangase bangathinteki, kanti abanye bangase babe nezinkinga ezinkulu zempilo.
- Nakuba kungekho ukwelashwa kwalesi simo, kunezindlela zokwelapha ezisebenza kahle kakhulu zokuphatha izimpawu nezinkinga zempilo ezibangelwa yiso.
- Uma wena noma othile emndenini wakho enokungabaza noma imibuzo mayelana ne-Mosaicism, into engcono kakhulu ongayenza ukuxoxa ngakho ngokukhululekile nodokotela wakho.
💬 Comments (0)
Awekho amazwana athunyelwe okwamanje. Faka amazwana akho lapha okokuqala ngqa.
Engeza amazwana akho