Siyazi ukuba imizimba yethu yenziwe ngeetriliyoni zeeseli. Sihlala sicinga ukuba nganye kwezi seli ineseti efanayo yolwazi lwemfuza, njengeekopi ezininzi zeplani efanayo. Kodwa ngamanye amaxesha oku kunokwahluka kancinci. Khawucinge ukuba ezinye iiseli emzimbeni wakho zineplani efanayo yemfuza, kwaye ezinye iiseli zineplani eyahlukileyo kancinci yemfuza. Yiloo nto siyibiza ngokuba yi-mosaicism kunyango.
Ngamafutshane, yintoni iMosaicism?
Ngamafutshane, iMosaicism kukubakho kwamaqela amabini okanye ngaphezulu ahlukeneyo ngokwemfuza eeseli emzimbeni womntu omnye. Oku kufana nobugcisa bemosaic. Kanye njengokuba iithayile ezincinci zemibala eyahlukeneyo kunye neemilo zidibana ukwenza umfanekiso omhle, okwenzekayo apha kukuba iiseli ezinemfuza ezahlukeneyo ziyadibana ukuze zenze umzimba omnye.
Umzekelo omhle woku ngumahluko kwinani lee-chromosomes. Umntu ophilileyo unee-chromosomes ezingama-46 kwiseli nganye. Nangona kunjalo, kumntu one-mosaicism, ezinye iiseli zinee-chromosomes ezingama-46, ngelixa elinye iqela leeseli linokuba nenani elahlukileyo, njengee-chromosomes ezingama-47 okanye ezingama-45. Lo mahluko wemfuza unokubangela iingxaki ezithile zempilo ekuzalweni, kwaye ngamanye amaxesha iingxaki kamva ebomini.
Zeziphi izifo ezinokunxulunyaniswa ne-mosaicism?
I-mosaicism inokubangela iintlobo ngeentlobo zezifo. Kodwa iziphumo zoku zahluka kakhulu kumntu nomntu. Kuxhomekeke kwipesenti yeeseli ezingaqhelekanga emzimbeni kunye nokuba zeziphi izitho ezo seli zikhoyo. Makhe sijonge ezinye zezifo eziphambili ezinxulumene noku.
| Imeko | Impembelelo kunye neempawu eziqhelekileyo |
|---|---|
| Isifo sikaMosaic Down | Olu luhlobo lwe-Down syndrome. Inokubangela ukukhubazeka kwengqondo, ubuthathaka bemisipha, kunye nobuso obuthe tyaba. Abanye abantwana banokuba nesifo sentliziyo, iingxaki zokugaya ukutya, kunye neengxaki ze-thyroid. |
| I-Pallister-Killan mosaic syndrome | Kwanakule meko, ubuthathaka bemisipha, ukulibaziseka kwengqondo, iinwele ezinciphileyo, umbala wolusu ongaqhelekanga, kunye nezinye iziphene zokuzalwa ziyabonakala. |
| Isifo se-SOX2 anophthalmia | Le yimeko engaqhelekanga kakhulu enokubangela iingxaki ezinkulu ezifana nokuzalwa komntwana engenamehlo, ukuxhuzula, iingxaki zokukhula kwengqondo, kunye nokukhula komzimba okulibazisekayo. |
| I-Trisomy 18 (iMosaic) | Le yimeko apho ukukhula komntwana kudodobala esibelekweni. Umntwana unokuzalwa enentloko encinci kunesiqhelo, iziphene zentliziyo, kunye nezinye iziphene zamalungu omzimba. Ngelishwa, abantwana abaninzi abanale meko abaphili ngaphaya konyaka wabo wokuqala. |
Ukongeza, i-mosaicism inokunxulunyaniswa nezinye iingxaki ze-chromosome, ezifana ne-Turner syndrome, kunye nezinye iintlobo zomhlaza, ingakumbi umhlaza wegazi.
Kutheni le meko isenzeka?
Oku kwenzeka ngengozi uninzi lwexesha. Oku akubangelwanga yimpazamo yomntu. Khawuthelekelele, emva kokuba iqanda likamama lixutywe sisidoda sikatata, iseli yokuqala (i-zygote) eyenzekayo iqala ukwahlukana. Ngale ndlela, njengoko iseli enye yahlulahlula ibe zimbini, zimbini, zine, zine, zisibhozo, njl.njl., umbungu uyakhula.
Ngexesha lokwahlulwahlulwa kweeseli, iseli nganye entsha kufuneka ifumane ikopi echanekileyo yeechromosomes zeseli yokuqala. Kodwa kunqabile kakhulu, impazamo inokwenzeka ngeli xesha lokukopa. Impazamo inokubangela ukuba iseli entsha ibe nenani elahlukileyo leechromosomes. Xa iseli enesiphene iqhubeka yahlukana, umzimba uvelisa isizukulwana seeseli ezine-genetic makeup engaqhelekanga. Iiseli zokuqala neziphilileyo nazo ziyaqhubeka zahlukana, kangangokuba ekugqibeleni umzimba uneeseti ezimbini zeeseli.
- I-mosaicism ekumgangatho ophezulu: Ukuba esi siphene senzeka kwangethuba kakhulu ekuphuhlisweni kombungu, ipesenti enkulu (50% nangaphezulu) yeeseli ezingaqhelekanga isasazeka emzimbeni wonke.
- I-mosaicism ekumgangatho ophantsi: Ukuba isiphene senzeka kwinqanaba elilandelayo lophuhliso, inani leeseli ezichaphazelekayo lincinci.
Ngaba kukho iintlobo eziphambili ze-mosaicism?
Ewe, iMosaicism inokwahlulwahlulwa ibe ziintlobo ezininzi eziphambili. Ukuqonda oku kunokukunceda uqonde ngcono uhlobo lwesi sifo.
| Ulwahlulo | Ingcaciso elula |
|---|---|
| Kuxhomekeke kuhlobo lweseli echaphazelekayo | |
| UbuMosaic baseSomatic | Apha, utshintsho lwemfuza lufumaneka kuphela kwiiseli eziqhelekileyo zomzimba (iiseli zomzimba). Oko kukuthi, iiseli kwizitho ezifana nolusu, ingqondo, kunye nentliziyo. Okubalulekileyo kukuba, le meko ayichaphazeli iiseli zokuzala (amaqanda kunye nesidoda), ngoko ke ayizuzwa kubazali ukuya ebantwaneni. |
| Unqulo lweMosaic oluvela kwiJamani | Utshintsho lwemfuza lufumaneka kuphela kwiiseli ze-germline, oko kukuthi, kumaqanda okanye kwisidoda. Ngoko ke, nokuba abazali abanazo iimpawu, abantwana babo basengozini yokufumana esi sifo semfuza. |
| Ngokwendlela esasazeka ngayo emzimbeni | |
| I-General Mosaicism | Apha, kukho iiseli ezingaqhelekanga kuwo wonke umzimba womntwana. |
| UbuMosaic obuValiweyo | Apha, iiseli ezingaqhelekanga azifumaneki kuwo wonke umzimba, kodwa zikhawulelwe kwilungu elithile okanye kwizicubu, njengengqondo, intliziyo, okanye isibindi. Umzekelo, kukho imeko ebizwa ngokuba yiConfined Placental Mosaicism, ekhawulelwe kwiplacenta. |
Oogqirha bayixilonga njani le meko?
Uvavanyo olukhethekileyo lwemfuza luyafuneka ukuze kufunyaniswe i-mosaicism.
- Ukuxilongwa Kwangaphambi Kokuzalwa: Ukuba kukho ukurhaneleka kokuba umntwana uneMosaicism ngexesha lokukhulelwa, oogqirha banokucebisa uvavanyo olukhethekileyo. I-Amniocentesis (ukuvavanya ulwelo lwe-amniotic olujikeleze umntwana) kunyeUvavanyo lweChorionic Villus Sampling (CVS) (ukuvavanya iqhekeza elincinci lesicwili esivela kwi-placenta) lolunye lolo vavanyo.
- Uvavanyo lwasemva kokubeleka: Emva kokuba umntwana ezelwe, imeko inokufunyanwa ngovavanyo lwegazi, i-skin biopsy, njl. Ngamanye amaxesha, kunokufuneka kuvavanywe iintlobo ezimbini ezahlukeneyo zezicubu ukuqinisekisa imeko echanekileyo.
Ingakumbi kwiindlela ezifana nokuchumisa i-in-vitro (IVF), kunokwenzeka ukuvavanya iziphene zemfuza ngovavanyo olubizwa ngokuba yi -Preimplantation Genetic Screening (PGS) ngaphambi kokuba i-embryo ifakwe kwisibeleko sikamama.
Ngaba ikho indlela yonyango lwe-mosaicism?
Le yingxaki abantu abaninzi abanayo. Enyanisweni, okwangoku akukho ndlela yokuguqula okanye yokunyanga imeko yemfuza esisiseko ebizwa ngokuba yiMosaicism. Oko kukuthi, akunakwenzeka ukuphelisa iiseli ezingaqhelekanga uze uzitshintshele endaweni yazo ngeeseli eziqhelekileyo.
Kodwa, okubaluleke kakhulu, kukho iindlela ezahlukeneyo zokulawula nokunyanga iingxaki zempilo kunye neempawu ezibangelwa yiMosaicism.
Iindlela zonyango zixhomekeke kwimeko echaphazela umntu ngamnye. Umzekelo, umntwana one-Mosaic Down syndrome angazuza kwi-speech therapy kunye ne-physiotherapy ukumnceda aphuhlise kwaye aphucule izakhono zakhe. Ukuba kukho ingxaki yentliziyo, unyango lunikwa ukujongana nesizathu esiyintloko. Oku kuthetha ukuba unyango alujoliswanga kwi-Mosaicism, kodwa kwimiphumo yengxaki. Kubalulekile ukuthetha nogqirha wakho malunga nesicwangciso sonyango esingcono kuwe okanye kumntwana wakho.
Liza kuba njani ikamva kule meko?
Kunzima ukuqikelela ukuba umntu one-mosaicism uza kuba njani, kuba oko kuxhomekeke kwizinto ezininzi. Ezona ziphambili ziquka:
- Ingakanani ipesenti yeeseli ezingaqhelekanga? (Ipesenti yeeseli ezingaqhelekanga)
- Ngawaphi amalungu omzimba/izicubu ezichaphazelekileyo?
- Ubunzima bemeko enxulumene nayo.
Umntu onepesenti ephantsi kakhulu yeeseli ezingaqhelekanga (i-mosaicism esezantsi) unokuphila ubomi obusempilweni ngokupheleleyo ngaphandle kweempawu. Omnye umntu unokuba neengxaki ezincinci. Ukuba ipesenti yeeseli ezingaqhelekanga iphezulu kwaye amalungu amakhulu anje ngengqondo nentliziyo ayachaphazeleka, iingxaki zinokunyuka.
Ngoko ke, endaweni yokoyika oku ngokungeyomfuneko, kubaluleke kakhulu ukubona ingcali, ufumane ingcebiso ngemfuza , kwaye ufumane ukuqonda okucacileyo ngemeko yakho okanye yomntwana wakho.
Umyalezo Wokuya Ekhaya
- I-Mosaicism kukubakho kwamaqela angaphezu kwesinye esahlukileyo ngokwemfuza emzimbeni womntu omnye.
- Oku akusiyongxaki yomntu, kodwa yimpazamo engacwangciswanga eyenzeka ngexesha lokwahlukana kweeseli ngexesha lokuqala kophuhliso lwe-embryonic.
- Imiphumo ye-mosaicism yahluka kakhulu kumntu nomntu. Abanye basenokungachaphazeleki, ngelixa abanye banokuba neengxaki zempilo ezinzulu.
- Nangona kungekho nyango lwale meko, kukho unyango olusebenzayo kakhulu lokulawula iimpawu kunye neengxaki zempilo ezibangelwa yiyo.
- Ukuba wena okanye umntu kusapho lwakho unemibuzo okanye amathandabuzo malunga neMosaicism, eyona nto ingcono onokuyenza kukuxoxa ngayo ngokukhululekileyo nogqirha wakho.
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