Prɔblɛm de wit yu pikin in kromozom dɛn? Lɛ wi tɔk bɔt Aneuploidy insay simpul wɔd dɛn!

I rili nɔmal fɔ mek yu, we de ɛkspɛkt fɔ bi mama, gɛt bɔku wɔri ɛn fred bɔt tin dɛn dis tɛm. Ɛspɛshali we yu tink bɔt di wɛlbɔdi we di smɔl pikin we de na yu bɛlɛ gɛt. Sɔntɛnde wi kin aks dɔktɔ dɛm, ɔ ivin di pipul dɛm we de dɔŋ wi, bɔt "jɛnɛtik sik dɛm" ɔ "kromozom prɔblɛm dɛm." Na dat wi go tɔk bɔt tide, wan sik we dɛn kɔl Aneuploidy . Di nem kin tan lɛk big tin, bɔt nɔ wɔri. Wi go tɔk bɔt dis rili simpul wan, di we we yu go ɔndastand.

Wetin na di kromozom dɛn? Lɛ wi ɔndastand am simpul wan.

Imajin, ɛni smɔl smɔl sɛl na wi bɔdi gɛt smɔl smɔl bɔl dɛn we gɛt trɛd insay. Na dat wi kin kɔl kromozom . Insay dɛn kromozom ya na wi DNA, we rili impɔtant. Jɔs lɛk program we de na kɔmpyuta, dis DNA gɛt ɔl di tin dɛn we wi bɔdi nid fɔ mek i gro, divɛlɔp, ɛn du ɔltin. Wi kin gɛt dɛn instrɔkshɔn ya frɔm wi mama ɛn papa. Na dat mek sɔntɛnde wi kin tan lɛk wi mama, sɔntɛnde wi kin tan lɛk wi papa, ɛn sɔntɛnde wi kin gɛt miks pan ɔl tu.

Mi ɛn yu, wi ɔl gɛt 23 kromozom frɔm wi mama ɛn 23 frɔm wi papa, fɔ wan totɛl we na 46 kromozom . Dɛn arenj dɛn tu tu insay wi sɛl dɛn; dat min se, 23 pe. Fɔ dɛn wan ya, 22 pe na di sem fɔ ɔlman. Di las tu de sho if wi na uman ɔ na man. Bɔku tɛm, if na gyal pikin, dɛn kin arenj am lɛk XX , ɛn if na bɔy pikin, dɛn kin arenj am lɛk XY .

Wi bɔdi sɛl dɛn de chenj ɔltɛm. We ol sɛl dɛn day, nyu sɛl dɛn kin mek. Wi kɔl dis sɛl divishɔn . Na simpul tin, lɛk we yu ‘kɔpi’ ɛn ‘pas’ na kɔmpyuta. We di sɛl dɛn sheb dis we, di kromozom dɛn we wi bin tɔk bɔt na di sem, ɛn dɛn kin go insay di tu nyu sɛl dɛn we dɛn kin mek. Dis kin apin ɔlsay na wi layf. כlso, we di bεs sεl dεm we nid fכ mek nyu pikin, dat na di mama in eg εn di papa in sεl dεm, dis sεl dεm we de sheb de apin bak. כltu, sכmtεm sכm sכm mistek dεm kin de εn dεfisεns dεm kin de na dis divεlכpmεnt fכ di kromozom dεm. di ekzak nכmba fכ di kromozom dεm we dεn fכ sheb kin nכ di sem. If dat apin, sɔm sɛl dɛn nɔ kin gɛt di rayt nɔmba fɔ di kromozom dɛn we dɛn fɔ sheb. Dat na di men rizin fɔ gɛt di sik dɛn we de na di jɛnɛtiks lɛk (Turner syndrome) ɔ (Down syndrome) .

So, wetin na dis (aneuploidy)?

fכ simpul wan, aneuploidy na we di kכrekt nכmba fכ di kromozom dεm nכ de na wi sεl dεm, we na 46. bכku tεm, dis kכndyushכn kin apin bikoz fכ sכm sכm mistek we kin apin we di mama in eg כ di papa in sεl dεm fכm. afta dat, as di pikin bigin fכ divεlכp, i de stat wit di chenj na di nכmba fכ di kromozom dεm.

Tu tin de we kin apin pan dis:

1. 1. 1. .Trisomy: dis min se εkstra kכpi de fכ wan pan di kromozom dεm, we de rεsult in totכl 47 kromozom dεm.

2. Monosomy: dis min se wan kromozom de mis, we de mek i totכl 45 kromozom.

we dεn bכn pikin wit dis kayn kromozom abnכmaliti, bכku tεm di bεlε nכ kin εnd fayn fayn wan. Risk de fɔ mek uman gɛt bɛlɛ . infakt, stכdi dεn dכn sho se dis kכndyushכn (aneuploidy) na in de mek lεk af pan כl di bεlε we de apin insay di fכs trimεst.

Wetin na di men kayn aneuploidy?

As wi bin dɔn tɔk, tu men kayn aneuploidy de: Trisomy ɛn Monosomy.

Trisɔmi we dɛn kɔl Trisomy

Trisomy min se di pikin gɛt ɛkstra kromozom. dis de mek di tכtal nכmba fכ di kromozom dεm rich 47. sεvεra men kכndyushכn dεm de we kin kכmכt frכm dis:

• Daun sindrom: Dis na de sik wae wi kin yɛri bɔt mɔr. wetin de apin ya na dat, εkstra kכpi de fכ di kromozom 21. dat min se tri kכpi de fכ di kromozom 21. dεn kכl dis bak (Trisomy 21) .
• (Trisomy 18) Trisomy 18: Dis na di say we yu kin gɛt ɛkstra kɔpi fɔ di kromozom 18. Dɛn bin de kɔl am trade Edwards syndrome , dis sik kin mek bɔku wɛlbɔdi prɔblɛm dɛn to pikin dɛn we dɛn bɔn wit dis sik.
• (Trisomy 13) Trisomy 13: Dis na di say we ɛkstra kɔpi de fɔ di kromozom 13. Dɛn bin de kɔl am bifo tɛm Patau syndrome , dis na sik bak we kin mek pɔsin gɛt siriɔs wɛlbɔdi prɔblɛm.

Monosomy we dɛn kin yuz

Monosomy min se di pikin de gɛt wan less kromozom. dis kin mek wan totכl 45 kromozom dεm. Di men tin dɛm wae kin kam wit dis na:

• Turner syndrome: Dis na wan sik we de mek pɔsin gɛt di sik we de mek pɔsin du mami ɛn dadi biznɛs wit ɔda pɔsin. nכmal wan, uman pikin gεt tu X kromozom dεm (XX). Wan uman pikin we gɛt Turner syndrome gɛt wan X kromozom nɔmɔ. Dɛn kɔl dis (Monosomy X) . Bikɔs Y kromozom nɔ de, dɛn kin bɔn dɛn pikin ya as gyal pikin.

Udat dɛn go mɔs afɛkt dis kayn tin?

Infakt, wan sik we dɛn kɔl aneuploidy kin afɛkt ɛni pikin . I kin apin randomly. Bɔt sɔm stɔdi dɛn dɔn sho se di prɔblɛm kin bɔku smɔl as di mama de ol . Fɔ ɛgzampul, mama we ol 20 ia kin gɛt wan pan ɛvri 1,480 chans fɔ bɔn pikin we gɛt prɔblɛm wit in kromozom, ɛn mama we ol 40 ia kin gɛt wan chans pan ɛvri 65. Bɔt dis nɔ min se mama dɛn we yɔŋ nɔ de pan denja. Insay di kes fɔ Turner syndrome, dɛn kin se di ej nɔ kin ple impɔtant pat.

Na dat mek, if yu de tink fɔ bɔn pikin, tɔk to dɔktɔ ɛn gɛt kɔyl fɔ yu jenɛtiks.I rili impɔtant fɔ gɛt am. Dɔn yu kin no bɔt dɛn tin ya bifo tɛm, ɔndastand di prɔblɛm dɛn we yu kin gɛt, ɛn tɔk bak bɔt di tɛst dɛn we yu nid fɔ du.

Aw kɔmɔn tin na aneuploidy? Yu tink se sɔntin de we gɛt fɔ du wit di we aw uman kin pwɛl bɛlɛ?

Aneuploidy εn kromozom abnכmaliti dεm kin kכmכn pas aw wi kin tink. Dɛn kin apin pan lɛk wan pan ɛvri 150 bɛlɛ dɛn . di aneuploidy de rispansabl bak fכ klos to 50% pan di pikin dεm we kin kכmכt kwik kwik wan . dis min se bכku tεm, nεchכr go tεmεnεt bεlε wit wan kromozom abnכmaliti pas fכ kכntinyu am.

Aw aneuploidy kin afɛkt di bɛlɛ?

fכ gεt εkstra kromozom (Trisomy) כ we yu nכ gεt kromozom (Monosomy) dεn tu kin afekt bεlε difrεn we dεm.

Trisɔmi: .

Bɔku pan di bɛlɛ dɛn we gɛt trisɔmi kin dɔn we dɛn nɔ gɛt bɛlɛ . stכdi dεm sho se lεk 35% pan כl di bεlε we dεn kin bכn na bikɔs ɔf trisomy. כltu, rεli rεli, bכt 1% pan di pikin dεm we dεn bכn wit trisomy kכndishכn. pan dεm, di wan dεm we kכmכn pas כl na di pikin dεm we gεt (Trisomy 21) כ (Down syndrome). If dɛn bɔn pikin wit dis kayn trisomy kɔndishɔn, di pikin in layf kin smɔl pas di nɔmal pikin. Dis na bikɔs ɔf difrɛn kɔmplikɛshɔn ɛn di prɔblɛm dɛn we pɔsin kin gɛt we i bɔn pikin we kin apin we dɛn bɔn am.

Monosomy: 1.

di kכndishכn dεm fכ monosomy nכ kin bכku pas trisomy. As wi no, na Monosomy X, ɔ Turner syndrome nɔmɔ kin mek dɛn bɔn pikin layf layf wan. Turner syndrome kin apin we na wan X kromozom nכmכ de. Bikɔs Y kromozom nɔ de, dɛn kin bɔn dɛn pikin ya as gyal pikin.

Wetin na di sayn dɛm fɔ aneuploidy?

Di sayn we kin sho se pɔsin gɛt aneuploidy na we uman kin gɛt bɛlɛ . dis na we di bεlε de dכn insay di mid tεm. dis kin apin insay di fכs tri mכst, bכt sכmtεm i kin apin leta. Di sayn dɛn we pɔsin kin si we i nɔ gɛt bɛlɛ na:

• Fɔ gɛt pen na yu bɛlɛ we de dɔŋ ɛn yu bak.
• Kramp lɛk we yu de gɛt mɔnt.
• Sɔntɛm smɔl, sɔntɛm bɔku blɔd.

Impɔtant: If yu tink se yu gɛt dɛn sik ya, yu fɔ go to dɔktɔ wantɛm wantɛm.

כltu, pan כl we lεk 50% pan di bεlε we kin kכmכt na di jεnεtik kכz lεk aneuploidy, sכmtεm dεn kin bכn pikin dεm wit dis kכndyushכn. Dɛn kayn pikin ya kin gɛt prɔblɛm wit dɛn bɔn pikin dɛn , ɛn dɛn kin delay fɔ gro ɛn dɛn kin gɛt prɔblɛm wit dɛn maynd .

Wetin mek dis (aneuploidy) kin apin? Wetin na di tin dɛn we kin mek i apin?

Aneuploidy na wan tin we nɔ fayn na di jɛnɛtiks. bכku tεm, dis difεkt kin apin bifo di mama in eg εn di papa in sεl dεm de kam togεda, dat na di tεm we di eg εn di sεl dεm de fכm. Wi bin dɔn tɔk bifo tɛm bɔt di we aw di sɛl dɛn de sheb. di eg dεm εn di sεl dεm de fכm bay wan spεshal sεl divεlכpmεnt prכsεs we dεn k כl meiosis . na ya, wan sel we gεt 46 kromozom dεm de sheb tu tεm, we de mek fכ sεl dεm (eg כ sεl) wit 23 kromozom dεm εvri wan. aneuploidy de apin we di kromozom pe dεm nכ de sεparayt fayn fayn wan di tεm we dis mεiosis de, εn sכm eg כ sεl dεm gεt tu mכch כ tu fכ kromozom dεm.

Dis na sɔntin we kin apin wantɛm wantɛm ɛn we pɔsin nɔ de ɛkspɛkt . Jɔs lɛk aw sɔntɛnde di printa we de na di ɔfis kin stɔp fɔ wok wantɛm wantɛm, ɔ wan pepa kin print kɔmɔt na in ples, na so wi DNA kin gɛt dɛn kayn mistek ya bak. Nɔbɔdi nɔ go ebul fɔ tɔk ustɛm ɔ aw i go apin. If yu want fɔ no mɔ bɔt dis, i go fayn fɔ mek yu tɔk to dɔktɔ ɛn gɛt kɔyl fɔ yu jɛnɛtiks.

Tεst dεm de we kin no se aneuploidy de we uman bεlε?

Yɛs, sɔm tɛst dɛn de we dɛn kin du we dɛn gɛt bɛlɛ fɔ no if di pikin gɛt wan sik we dɛn kɔl aneuploidy. Sɔm pan dɛn tin ya na tɛst fɔ chɛk pɔsin, ɛn ɔda wan dɛn na tɛst fɔ no if pɔsin gɛt sik.

• Noninvasive Prenatal Testing (NIPT) / Noninvasive Prenatal Screening (NIPS): Dis na simpul bכdi tεst we dεn kin du afta 10 wiks we uman bεlε. I kin tek wan sɛmpul pan di mama in blɔd ɛn luk fɔ di pikin in DNA insay fɔ si aw i go mɔs gɛt sik dɛn lɛk Daun sindrom, Trisomy 18, ɛn Trisomy 13. Dis kin jɔs tɛl yu di prɔblɛm, nɔto di rayt tin we kin mek i gɛt dis sik.
• Chorionic Villus Sampling (CVS): dis na tεst we dεn kin du bitwin 10 εn 13 wiks we uman bεlε. na ya, di dכkta de tek wan rili sכm sכm sεl dεm frכm di plasεnta εn tεst am fכ si if i gεt jεnεtik kכndishכn. dis kin kכrekt fכ no di kכndyushכn dεm lεk aneuploidy. Bɔt i kin gɛt smɔl prɔblɛm we kin mek i nɔ gɛt bɛlɛ.
• Amniocentesis: dis na tεst we dεn kin du bitwin 15 εn 20 wiks we uman bεlε. na ya, di dכkta de tek sכm sכm sεmpl fכ di amniotic fluid we de rawnd di pikin εn egzamin di pikin in sεl dεm we de insay. dis kin no bak di kכndyushכn kכndyushכn dεm lεk aneuploidy εn sכm כda difεkt dεm we dεn bכn pikin. Na smɔl risk de bak fɔ mek uman gɛt bɛlɛ.

Bifo yu disayd fɔ du dɛn tɛst ya, i rili impɔtant fɔ tek tɛm tɔk to yu dɔktɔ ɛn ɔndastand di gud ɛn bad tin dɛn.

Aw dɛn kin trit Aneuploidy?

fכ tru, nכ spεshal tritmεnt de fכ di kכndyushכn (Aneuploidy).. bכku aneuploidy kכndyushכn dεm kin kil di pikin, כ kin mek i gεt siriכs prכblεm lεk in intellectual disabiliti εn fכshal fכs. So, di tritmɛnt de fɔ trit di sayn dɛm ɛn di prɔblɛm dɛm we ɛni pikin gɛt. Dat min se dɛn fɔ mek wan tritmɛnt plan we dɛn mek fɔ ɛni pikin ɛn we go mek dɛn gɛt wɛlbɔdi.

If yu gɛt bɛlɛ, risk de fɔ mek yu nɔ gɛt bɛlɛ bikɔs ɔf (aneuploidy). We uman kin pwɛl bɛlɛ na tin we kin rili at fɔ uman, pan in bɔdi ɛn in maynd. If dis apin, yu nid fɔ gi yusɛf tɛm fɔ wɛl.

If yu de tink bɔt fɔ mek famili, tɔk to dɔktɔ bɔt aw fɔ tɛst yu jɛnɛtiks ɛn aw fɔ mek yu gɛt mɔ chans fɔ gɛt bɛlɛ fayn fayn wan.

Ɛnitin de we wi kin du fɔ ridyus di risk fɔ gɛt aneuploidy?

Aneuploidy nɔ kin ebul fɔ stɔp am ɔl bikɔs na random jenɛtik dɛfɛkt. Bɔt sɔm tin dɛn de we wi kin du fɔ ridyus di risk fɔ mek pikin nɔ bɔn pikin:

• Fɔ it fayn it: Fɔ it tin dɛn we gɛt fayn fayn tin dɛn rili impɔtant we yu gɛt bɛlɛ.
• Gɛt jenɛtik tɛst bifo yu plan fɔ gɛt bɛlɛ: Ɛspɛshali if pɔsin na yu famili gɛt jɛnɛtik sik, ɔ if yu dɔn pas 35 ia.
• Nɔ smok ɛn drink rɔm kpatakpata.
• Fɔ tek di vaytamɛn dɛn we yu dɔktɔ tɛl yu bifo yu bɔn di pikin kɔrɛkt wan: mɔ di vaytamɛn dɛn we gɛt fɔlik asid.

If yu gɛt bɛlɛ bikɔs ɔf aneuploidy, yu kin gɛt bɛlɛ bak?

Yɛs, bɔku tɛm i pɔsibul . di chans fכ mek di pikin bכn bikoz fכ aneuploidy apin bak rili sכm. Bikɔs, lɛk aw wi bin dɔn tɔk bifo tɛm, dis na tin we kin apin wantɛm wantɛm. Bɔku uman dɛn dɔn gɛt wɛlbɔdi pikin dɛn afta dɛn dɔn gɛt bɛlɛ bikɔs dɛn gɛt aneuploidy. Bɔt i fayn fɔ tɔk to yu dɔktɔ bɔt di prɔblɛm dɛn we yu kin gɛt ɛn di tɛst dɛn we yu kin du bifo yu tray fɔ gɛt bɛlɛ bak.

Wetin yu kin ɛkspɛkt if yu gɛt pikin we gɛt aneuploidy?

Bɔku tɛm, we dɛn no se i gɛt wan sik (aneuploidy), mama ɛn papa dɛn kin gɛt fɔ gɛt bɛlɛ. Dis na ɛkspiriɛns we rili sɔri. Bɔt wetin impɔtant fɔ ɔndastand na dat dis bin apin bikɔs ɔf wan jenɛtik difrɛns we bin apin we i gɛt bɛlɛ, nɔto bikɔs ɔf ɛnitin we di mama bin du we i gɛt bɛlɛ. Yu dɔktɔ go ɛp yu fɔ wɛl na yu bɔdi ɛn yu maynd afta yu dɔn pwɛl bɛlɛ.

If dɛn bɔn pikin wit aneuploidy, da pikin de kin gɛt prɔblɛm wit in divɛlɔpmɛnt , i kin shɔt, i kin gɛt prɔblɛm wit in bɔdi, ɛn i kin gɛt prɔblɛm wit in maynd ɔlsay na in layf. So, i rili impɔtant fɔ de chɛk di pikin in wɛlbɔdi ɔltɛm wit dɔktɔ ɛn gi am di tritmɛnt ɛn sɔpɔt we i nid. No kɔmplit mɛrɛsin nɔ de fɔ aneuploidy.

Ustɛm yu fɔ go to dɔktɔ?

• Yu gɛt sayn dɛn we de sho se yu gɛt bɛlɛ.If yu gɛt ɛni sayn (bɛlɛ pen, bak pen, blɔd), go to dɔktɔ wantɛm wantɛm. I go tɛl yu if yu nid fɔ go na ɔspitul ɔ nɔ nid fɔ go.
• Afta we di bɛlɛ dɔn pwɛl, if yu si ɛni wan pan dɛn sayn ya, go to dɔktɔ wantɛm wantɛm, bikɔs dɛn kin bi sayn fɔ se yu gɛt di sik:
• If yu gɛt kol ɛn fiva (Chills, Fever) .
• If yu de blɔd bɔku bɔku wan (Heavy bleeding) .
• If yu kin gɛt pen ɛn nɔr kin fil fayn ɔltɛm

Wetin na di impɔtant kwɛstyɔn dɛn we yu fɔ aks yu dɔktɔ?

We yu de tɔk to dɔktɔ bɔt dis, nɔ fɔgɛt fɔ aks dɛn kwɛstyɔn ya:

• A de pan denja fɔ gɛt pikin we gɛt wan sik we de kɔmɔt frɔm mi jɛnɛtiks?
• Afta a miskɛri bikɔs ɔf aneuploidy, mi bɔdi wɛl fɔ gɛt ɔda pikin?
• If a de pan denja fɔ gɛt pikin we gɛt jenɛtik sik, yu kin se dɛn fɔ du ɔda skrinin bifo a bɔn?

Wetin na di difrɛns bitwin (Aneuploidy) ɛn (Polyploidy)?

aneuploidy εn polyploidy na dεn tu jεnεtik kכndishכn dεm we de kכmכt frכm di chenj in di nכmba fכ di kromozom dεm na di pikin in DNA. Bɔt smɔl difrɛns de.

• aneuploidy na di prεsεns fכ wan εkstra kromozom (e.g. 47) כ wan lεs kromozom (e.g. 45). sכm tεm, mכltipכl kromozom dεm kin mis/ad.
• polyploidy na di kכndishכn fכ gεt εkstra sεt fכ kromozom dεm (i.e. 23 kromozom dεm). fכ egzampl, if yu gεt 23 kromozom frכm yu mama εn 46 kromozom frכm yu papa (i.e. tu tεm di nכmal nכmba), dεn kכl am Triploidy. Dɛn tin ya nɔ kin apin so ɔltɛm ɛn bɔku tɛm dɛn kin kil pɔsin.

Fɔ dɔn, tin dɛn fɔ mɛmba (Take-Home Message) .

Aneuploidy kin mek yu fred we yu yɛri bɔt am. Bɔt mɛmba se, bɔku tɛm na random tin we kin apin, tru no fɔlt fɔ yusɛf. Jɔs lɛk aw di kɔmpyuta we wi de yuz kin stɔp fɔ wok wantɛm wantɛm, ivin we wi sɛl dɛn sheb, sɔntɛnde, smɔl mistek dɛn kin apin.

Di tin we impɔtant pas ɔl na fɔ no se nɔto yu wangren de. Dɔktɔ, fambul, ɛn padi dɛn de we kin tɔk bɔt dis, gi yu advays, ɛn ɛp yu. If yu de plan fɔ gɛt bɛlɛ, ɔ yu dɔn gɛt bɛlɛ, tɔk opin wan bɔt dis wit yu dɔktɔ. Gɛt advays bɔt yu jɛnɛtiks. Dis go ɛp yu fɔ ɔndastand tin dɛm lɛk aneuploidy, yu risk dɛm, ɛn de tɛst dɛm wae dɛn kin du. Dɔn bak, if yu gɛt fɔ bia wit wan bad bad tin lɛk we yu nɔ gɛt bɛlɛ, nɔ shem fɔ gɛt di sɔpɔt we yu nid fɔ mek yu wɛl pan am na yu bɔdi ɛn yu maynd.

Wi op se ɔltin go fayn!

` Kromozom, aneuploidy, jin, bεlε, miskεri, Down syndrome, Turner syndrome, trisomy, monosomy, jεnεtik tεst, bכn difεkt, DNA, sεl divεlכpmεnt