Wi no se wi bɔdi gɛt bɔku bɔku sɛl dɛn. Wi kin tink se ɛni wan pan dɛn sɛl ya gɛt di sem sɛt ɔf jɛnɛtik infɔmeshɔn, lɛk bɔku kɔpi dɛn fɔ di sem bluprint. Bɔt sɔntɛnde dis kin difrɛn smɔl. Imajin se sɔm sɛl dɛn na yu bɔdi gɛt di sem jɛnɛtik bluprint, ɛn sɔm sɛl dɛn gɛt difrɛn jɛnɛtik bluprint smɔl. Na dat wi kin kɔl mosaicism insay mɛrɛsin.
Fɔ tɔk am simpul wan, wetin na Mozis?
Fɔ tɔk am simpul wan, Mosaicism na we tu ɔ mɔ grup dɛn we difrɛn frɔm dɛn jɛnɛtiks de na di sem pɔsin in bɔdi. Dis tan lɛk mosayk art. Jɔs lɛk aw smɔl tayl dɛn we gɛt difrɛn kɔlɔ ɛn shep kin kam togɛda fɔ mek fayn fayn pikchɔ, na so di tin we kin apin ya na dat sɛl dɛn we gɛt difrɛn jɛnɛtik mek-ap kin kam togɛda fɔ mek wan bɔdi.
wan gud egzampl fכ dis na di difrεns we de bitwin di nכmba fכ di kromozom dεm. Pɔsin we gɛt wɛlbɔdi gɛt 46 kromozom dɛn na ɛni sɛl. Bɔt pan pɔsin we gɛt mosaysis, sɔm sɛl dɛn gɛt 46 kromozom dɛn, ɛn ɔda grup pan sɛl dɛn kin gɛt difrɛn nɔmba lɛk 47 ɔ 45 kromozom dɛn. Dis difrɛns pan jɛnɛtiks kin kam wit sɔm wɛl bɔdi prɔblɛm dɛn we dɛn bɔn am, ɛn sɔm tɛm dɛn kin gɛt prɔblɛm dɛn leta na layf.
Us sik dɛn kin gɛt fɔ du wit mosayk?
Mosayk kin mek pɔsin gɛt difrɛn sik dɛn. Bɔt di tin dɛn we dis kin du kin difrɛn frɔm wan pɔsin to ɔda pɔsin. i dipכnt pan di pasεnshכn fכ di abnכmal sεl dεm na di bכdi εn us כgan dεm dεn sεl dεm de. Lɛ wi luk sɔm pan de men sik dɛm wae gɛt fɔ du wit dis.
| Kɔndishɔn | Impekt ɛn kɔmɔn tin dɛn |
|---|---|
| Sindrom we dɛn kɔl Mosaic Down syndrome | Dis na wan kayn sik we dɛn kɔl Down syndrome. I kin mek pɔsin nɔ ebul fɔ tink fayn, in mɔsul dɛn kin wik, ɛn in fes kin flat. Sɔm pikin dɛn kin gɛt at sik bak, dɛn kin gɛt prɔblɛm wit dɛn digest, ɛn dɛn kin gɛt tayroyd prɔblɛm. |
| Pallister-Killan mosayk sindrom we gɛt di sik | Ivin pan dis kכndyushכn, dεn kin si di mכsul dεm we wik, di intellectual delay, di ia we de tכn, di skin we nכ de kכmכt rεgulεr, εn כda difεkshכn dεm we dεn bכn pikin. |
| SOX2 anoftalmia sindrom we de mek pɔsin gɛt sik | Dis na wan sik we nɔ kin apin so ɔltɛm we kin mek i gɛt siriɔs prɔblɛm lɛk we dɛn bɔn di pikin we nɔ gɛt yay, we i kin gɛt sik, we i gɛt prɔblɛm wit in bren, ɛn we i kin delay fɔ mek in bɔdi gro. |
| Trisɔmi 18 (Mosayk) . | dis na kכndishכn we di pikin in gכt de stכn na di bεlε. Dɛn kin bɔn di pikin wit in ed we smɔl pas aw i kin bi, in at kin pwɛl, ɛn ɔda ɔgan dɛn we nɔ fayn. Bɔt i sɔri fɔ no se bɔku pikin dɛn we gɛt dis sik nɔ kin liv pas dɛn fɔs ia. |
Apat frɔm dat, mosaysis kin gɛt fɔ du wit ɔda tin dɛn we nɔ kin apin na di kromozom, lɛk Turner syndrome, ɛn sɔm kayn kansa, mɔ di blɔd kansa.
Wetin mek dis tin kin apin?
Dis kin rili apin bɔku tɛm bay chans. Dis nɔto bikɔs ɔf ɛnibɔdi in fɔlt. Imajin, afta di mama in eg dɔn fεtilayz bay di papa in sεl, di fכs sεl (zygote) we de fכm de bigin fכ sheb. dis we ya, as wan sεl de sheb to tu, tu, fכ, fכ, et, εn כda tin dεm, di εmbrayo de divεlכp.
di tεm we di sεl dεm de sheb, εvri nyu sεl fכ gεt εksakכt kכpi fכ di kromozom dεm na di כrijinal sεl. Bɔt nɔto ɔltɛm, mistek kin apin we dɛn de kɔpi dis. di mistek kin mek di nyu sεl gεt difrεn nכmba fכ kromozom dεm. we di sεl we nכ de wok fayn de kכntinyu fכ sheb, di bכdi de mek wan jεnereshכn fכ sεl dεm we gεt abnכmal jεnεtik mεkכp. Di ɔrijinal sɛl dɛn we gɛt wɛlbɔdi bak kin kɔntinyu fɔ sheb, so dat leta di bɔdi kin gɛt tu sɛt sɛl dɛn.
- di hכy lεvεl mכsaysis: if dis difεkt de apin rili ali we di εmbrayo de divεlכp, big pasεnshכn (50% כ mכr) pan di abnכmal sεl dεm de spre כlsay na di bכdi.
- lכw lεvεl mosaysis: if di dεfεkt apin leta stej fכ divεlכpmεnt, di nכmba fכ di sεl dεm we afekt na sכm.
Yu tink se men kayn mosayk dɛn de?
Yɛs, wi kin sheb Mozis to difrɛn men kayn dɛn. We yu ɔndastand dis, dat kin ɛp yu fɔ ɔndastand gud gud wan bɔt aw dis sik tan.
| Klasifikɛshɔn | Simpul ɛksplen |
|---|---|
| dipכnt pan di kayn sεl we dεn afekt | |
| Somatik Mosaykism we dɛn kɔl Somatik | na ya, di jεnεtik chenj de כnli insay di bכdi in nכmal sεl dεm (somatik sεl dεm). Dat min se, di sεl dεm we de insay di כgan dεm lεk di skin, di bren, εn di at. di imכtant tin na dat dis kכndyushכn nכ de afekt di rεprכdaktiv sεl dεm (eg εn sεl dεm), so i nכ de gεt frכm mama εn papa to pikin dεm. |
| Jɛmlayn Mosaykism | di jεnεtik chenj de כnli insay di jεmlayn sεl dεm, dat na insay di eg כ di sεl dεm. So, ivin if di mama ɛn papa nɔ gɛt ɛni sik, dɛn pikin dɛn de pan denja fɔ gɛt dis jenɛtik kɔndishɔn. |
| Akɔdin to di spred we de na di bɔdi | |
| Jɛnɛral Mozisism | na ya, abnכmal sεl dεm de insay di pikin in wan ol bכdi. |
| Confined Mosaicism we dɛn bin de fala | na ya, di abnכmal sεl dεm nכ de fכnshכn כlsay na di bכdi, bכt dεn de fכ wan patikyula כgan כ tisu, lεk di bren, at, כ liva. fכ egzampl, wan kכndyushכn de we dεn kכl Confined Placental Mosaicism, we de limited to di plasεnta. |
Aw dɔktɔ dɛn kin no bɔt dis sik?
Dɛn nid fɔ du spɛshal tɛst fɔ no if pɔsin gɛt mosayk.
- Prenatal Diagnosis: If dɛn tink se pikin gɛt Mosaicism we i gɛt bɛlɛ, dɔktɔ dɛn kin se dɛn fɔ du spɛshal tɛst. Amniocentesis (we de tεst di amniotic fluid we de rawnd di pikin) εnChorionic Villus Sampling (CVS) (we de egzamin wan sכm pat pan di tisu frכm di plasεnta) na wan pan dεn tεst dεm ya.
- tεst afta di pikin bכn: Afta dεn bכn di pikin, dεn kin no di kכndyushכn tru bכdi tεst, skin bayopsi, εn כda tin dεm sכmtεm, i kin nid fכ tεst tu difrεn tכp dεm fכ kכnfכm di εksakכt kכndyushכn.
εspεshali insay mεtכd dεm lεk in-vitro fεtilayzεshכn (IVF), i pכsibul fכ tεst fכ jεnεtik dεfekt tru wan tεst we dεn kכl Preimplantation Genetic Screening (PGS) bifo dεn implant di εmbrayo insay di mama in uterus.
Yu tink se tritmɛnt de fɔ mek pɔsin yuz mosayk?
Dis na prɔblɛm we bɔku pipul dɛn gɛt. Infakt, naw, no we nɔ de fɔ rivɛns ɔ mɛn di ɔndalayn jenɛtik kɔndishɔn we dɛn kɔl Mozaicism. Dat min se i nɔ pɔsibul fɔ pul di abnɔmal sɛl dɛn ɛn riples dɛn wit nɔmal sɛl dɛn.
Bɔt, di tin we impɔtant pas ɔl na dat, difrɛn we dɛn de fɔ manej ɛn trit di wɛlbɔdi prɔblɛm ɛn di sayn dɛn we Mozis rilijɔn kin kam wit.
Di tritmɛnt opshɔn dɛn dipen pan di kɔndishɔn we de afɛkt ɛnibɔdi. Fɔ ɛgzampul, pikin we gɛt Mosaic Down syndrome kin bɛnifit frɔm speech therapy ɛn physiotherapy fɔ ɛp dɛn fɔ divɛlɔp ɛn mek dɛn ebul fɔ du mɔ. If at sik de, dɛn kin gi tritmɛnt fɔ adrɛs di ɔndalayn kɔz. Dis min se di tritmɛnt nɔ de fɔ di Mozisism, bɔt na di bad tin dɛn we go apin to di sik. I impɔtant fɔ tɔk to yu dɔktɔ bɔt di bɛst tritmɛnt plan fɔ yu ɔ yu pikin.
Aw tin go tan lɛk tumara bambay wit dis tin we go apin?
I nɔ kin izi fɔ tɔk bɔt di prɔgnosis fɔ pɔsin we gɛt mosayk, bikɔs i kin dipen pan bɔku tin dɛn. Di men wan dɛn na:
- Wetin na di pasɛnt pan di sɛl dɛn we nɔ de wok? (Pεsεnt pan di sεl dεm we nכ nכmal) .
- Us ɔgan/tisu dɛn kin afɛkt?
- Di kayn we aw di kɔndishɔn we gɛt fɔ du wit am, siriɔs.
Pɔsin we gɛt rili smɔl pasɛnt pan di abnɔmal sɛl dɛn (lɔ-lɛvɛl mosayk) kin liv kɔmplit wɛlbɔdi layf we nɔ gɛt ɛni sayn. Wan ɔda pɔsin kin gɛt smɔl prɔblɛm dɛn. If di pasεnshכn fכ di sεl dεm we nכ nכmal bכku εn di mεjכr כgan dεm lεk di bren εn at de afekt, di prכblεm dεm kin bכku.
So, pas fɔ fred dis we yu nɔ nid fɔ du, i rili impɔtant fɔ go to spɛshal pɔsin, fɔ gɛt kɔyl fɔ yu pikin dɛn we gɛt jɛnɛtiks , ɛn fɔ ɔndastand klia wan bɔt di patikyula tin we yu ɔ yu pikin gɛt.
Mɛsej we dɛn kin kɛr go na os
- Mosayk na we pas wan grup we gɛt difrɛn jɛnɛtiks pan sɛl dɛn de na di sem pɔsin in bɔdi.
- dis nכto enibodi in fכlt, bכt na random mistek we de apin we di sεl dεm de divεlכp di fכs stej dεm we di εmbrayo de divεlכp.
- Di tin dɛn we mosayk kin du kin difrɛn frɔm wan pɔsin to ɔda pɔsin. Sɔm pan dɛn nɔ kin afɛkt dɛn, ɛn ɔda wan dɛn kin gɛt siriɔs wɛlbɔdi prɔblɛm.
- Pan ɔl we no mɛrɛsin nɔ de fɔ dis sik, tritmɛnt dɛn de we rili fayn fɔ mɛn di sik ɛn wɛlbɔdi prɔblɛm dɛn we kin kam wit am.
- If yu ɔ pɔsin na yu famili gɛt ɛni dawt ɔ kwɛstyɔn bɔt Mozis, di bɛst tin fɔ du na fɔ tɔk bɔt am opin wan wit yu dɔktɔ .
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