Sɔntɛnde dɔktɔ kin tɛl yu se smɔl chenj de na yu jin, we dɛn kɔl ‘Robertsonian Translocation’. Yu kin fred we yu yɛri dɛn wɔd ya. Na nɔmal tin fɔ tink bɔt tin dɛn lɛk, ‘Dis na siriɔs sik? Yu tink se i go bi prɔblɛm fɔ mi pikin dɛn?’ Bɔt nɔ fred. Dis na sɔntin we nɔto bɔku pipul dɛn no bɔt, bɔt i fayn fɔ no. Dis na wan sik wae nɔr kin bɔrku, wae min se na lɛk wan pan ɛvri 900 pipul dɛm nɔmɔ kin gɛt am. Tide, wi go tɔk bɔt am insay wan rili simpul we, insay wan we we yu go ɔndastand.
Fɔ tɔk am simpul wan, wetin na jin ɛn kromozom?
Bifo wi ɔndastand dis, lɛ wi tek tɛm luk aw dɛn mek wi bɔdi. Imajin se wi bɔdi na laybri we gɛt big buk shelf. Ɛni buk we de na dis laybri gɛt di instrɔkshɔn dɛn we mek wi.
Dɛn buk ya na wetin wi kɔl kromozom na mɛrɛsin. dis na dεn wan dεm we de kip כl wi jεnεtik infכmeshכn - di sεt כf instrכkshכn dεm we de sho כltin frכm wi ia kכla, yay kכla, ayt, εn skin kכla.
Nɔmal wan, pɔsin we gɛt wɛlbɔdi kin gɛt 46 kromozom dɛn. Pan dɛn wan ya, wi kin gɛt 23 frɔm wi mama ɛn di ɔda 23 frɔm wi papa.
So aw dis Robertsonian translokeshɔn kin apin?
pan di 46 kromozom dεm na wi bכdi, kromozom 13, 14, 15, 21, εn 22 spεshal smɔl. Dɛn kɔl dɛn akrosɛntrik kromozom dɛn . dis kromozom dεm gεt wan ‘am’ we rili sכt. di tin we impɔtant pas ɔl na dat, dis shɔt an nɔ gɛt ɔlmost ɛni jɛnɛtik infɔmeshɔn we impɔtant fɔ mek wi bɔdi wok fayn.
Naw, insay Robertsonian Translocation, wetin kin apin na dat di sכt an dεm fכ tu pan di fayv akrosentrik kromozom dεm we a bin tכk bכt, de brok, εn di lכng an dεm fכ dεn tu kromozom dεm de stik togeda. I tan lɛk se yu brok tu smɔl smɔl tu stik dɛn ɛn pul dɛn, dɔn yu glu di tu big pat dɛn we lɛf togɛda. Dɔn dɛn tu smɔl an dɛn de we nɔ gɛt yus nɔ de igen.
We tu kromozom dɛn jɔyn togɛda dis we, di pɔsin in ɔl kromozom dɛn naw na 45, nɔto 46. Bɔt i nɔ go gɛt ɛni wɛlbɔdi prɔblɛm. Na bikɔs na sɔm smɔl smɔl tin dɛn nɔmɔ we nɔ gɛt impɔtant jin dɛn bin lɔs.
Yu tink se kayn tin dɛn de we kin apin to dis?
Yɛs, dis sityueshɔn kin sheb to tu men kayn. Yu go ɔndastand am izi wan we yu luk dis tebul.
| Kayn | Tɔk bɔt |
|---|---|
| Balans Rɔbɔtsonian Translokeshɔn (Balɛns) . | Pipul wae gɛt dis sik nɔr kin gɛt ɛni sayn ɔr wɛl bɔdi prɔblɛm. Dɛn kin liv lɔng ɛn gɛt wɛlbɔdi. Bɔku tɛm, dɛn nɔ kin ivin no se dɛn gɛt am. Dɛn kin kɔl dɛn pipul ya ‘carrier’ bikɔs dɛn nɔ gɛt di sik, bɔt dɛn kin pas am to dɛn pikin dɛn. |
| Rɔbɔtsonian Translokeshɔn we nɔ balans (Nɔ balans) . | Na dis say prɔblɛm kin kam. Dis na di say we di pikin kin gɛt tumɔs ɔ tu smɔl jɛnɛtik matirial. Bɔku tɛm dɛn kin no dis afta dɛn bɔn di pikin. Sɔntɛnde, ivin if di mama ɛn papa dɛn kromozom nɔmal, di sik kin kam we di pikin de gro na di bɛlɛ. Na smɔl tɛm nɔmɔ, wan pan di mama ɛn papa na pɔsin we de kɛr di pikin ɛn di pikin kin gɛt dis sik. |
Aw pikin kin gɛt dis sik?
we wan Robertsonian Translocation carrier gεt pikin wit כda pכsin, di jin kin inhεrit insay tri men we dεm. Imajin se na yu na di pɔsin we de kɛr di tin dɛn.
1. Pikin we gɛt wɛlbɔdi ɔlsay: Yu pikin kin gɛt nɔmal sɛt ɔf kromozom frɔm yu ɛn yu patna. Dɔn di pikin nɔ go gɛt ɛni prɔblɛm wit in jɛnɛtiks. I go mek pɔsin gɛt wɛlbɔdi atɔl.
2. di pikin go bi kכriכg bak: di pikin, lεk yu, kin gεt di transloket kromozom εn di nכmal kromozom dεm. Dɔn di pikin nɔ go gɛt ɛni wɛlbɔdi prɔblɛm. Bɔt insɛf go bi pɔsin we de kɛr pipul dɛn lɛk yu tumara bambay.
3. kכndishכn we nכ balans: Dis na we di pikin de gεt εkstra כ sכm jεnεtik mεtirial. fכ egzampl, di pikin kin gεt nכmal kromozom wit di εkstra kromozom. dis kin mek di pikin gεt sכm jεnεtik kכndyushכn dεm, lεk translocation Down syndrome כ Patau syndrome . Bɔt di kayn sik ɛn aw i siriɔs de dipen pan di rayt kromozom dɛn we dɛn kin gɛt.
Ɔda prɔblɛm dɛn de we kin mek pɔsin gɛt prɔblɛm?
uman we gεt Robertsonian translocation kin gεt sכm hεvi pas nכmal risk fכ bכn. Dɔn bak, sɔm man dɛn we gɛt dis sik kin gɛt smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl.
Aw fɔ no dis sik?
Bɔku pipul dɛn nɔ no se dɛn na pɔsin we de kɛr pipul dɛn. Dɛn kin jɔs no if dɛn dɔn gɛt bɛlɛ bɔku tɛm ɔ if dɛn bɔn pikin wit di jenɛtik kɔndishɔn. Dɔn di dɔktɔ go tɛl dɛn fɔ du tɛst fɔ no.
Di tɛst fɔ no dis rili simpul. Na simpul blɔd tɛst . Dɛn kin tek smɔl blɔd frɔm yu ɛn dɛn kin chɛk di kromozom dɛn we de na di blɔd sɛl dɛn wit maykroskɔp. Dɛn kɔl dis tɛst Karyotyping . afta dat yu kin si klia wan if yu gεt כl di 46 kromozom dεm in כda, כ if yu gεt wan less (45), εn if εni kromozom dεm de we stכk togeda.
If yu no se sɔmbɔdi na yu famili gɛt dis jenɛtik sik, yu dɔktɔ go tɛl yu ɛn yu patna fɔ du dis tɛst bifo yu tray fɔ bɔn pikin.
Na nɔmal tin fɔ fil fɔ fred ɛn wɔri we yu lan bɔt dis sik. Bɔt di tin we impɔtant pas ɔl na fɔ gɛt di rayt infɔmeshɔn ɛn aks fɔ di dɔktɔ advays we yu nid.
Mɛsej we dɛn kin kɛr go na os
- Robertsonian Translocation nɔto sik we yu fɔ fred. Bɔrku pipul dɛm wae gɛt am (carrier) kin gɛt wɛl bɔdi ɛn liv nɔrmal layf.
- di men impak we dis kin du na di risk fכ pas di jin to pikin. Bɔt ilɛksɛf yu na pɔsin we de kɛr di sik, yu stil gɛt chans fɔ bɔn pikin dɛn we gɛt wɛlbɔdi.
- If yu gɛt bɛlɛ ɔltɛm, i nɔ izi fɔ gɛt bɛlɛ, ɔ yu famili gɛt sik dɛn we yu gɛt frɔm yu jɛnɛtiks, i go fayn fɔ mek yu tɔk to yu dɔktɔ bɔt fɔ du tɛst lɛk karyotayp.
- If yu gɛt ɛni ɔda kwɛstyɔn bɔt dis, nɔ shek fɔ aks yu dɔktɔ . I go gi yu ɔl di infɔmeshɔn, advays, ɛn riferal fɔ jenɛtik kɔyl if nid de.
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