Mama ɛn Papa, sɔntɛnde we wi si smɔl chenj na wi pikin dɛn, we dɛn de biev smɔl difrɛn frɔm ɔda pikin dɛn, i nɔmal fɔ fil smɔl fred ɛn wɔri, nɔto so? Bɔt nɔto ɔl chenj na big prɔblɛm. Tide wi go tɔk bɔt wan jenɛtik kɔndishɔn we spɛshal smɔl, bɔt dɛn kin ebul fɔ manej am fayn if dɛn ɔndastand am fayn ɛn gi am di sɔpɔt we i nid. Dɛn kɔl dis 47,XYY sindrom . Sɔm pipul dɛn kin kɔl am bak di sik we dɛn kɔl Jacobs Syndrome .
Wetin na 47,XYY sindrom? Fɔ tɔk am simpul wan...
Yu no se na smɔl smɔl sɛl dɛn mek wi bɔdi. Insay dɛn sɛl dɛn de, wi gɛt wi jɛnɛtik infɔmeshɔn, we de sho tin dɛn lɛk ayt, kɔlɔ, ɛn aw di ia tan. Dɛn tin ya de insay paket dɛn we dɛn kɔl kromozom .
Nɔmal wan, man sɛl gɛt 46 kromozom dɛn. dis inklud wan X kromozom εn wan Y kromozom (dat na 46,XY). כltu, man pikin כ big man we gεt 47,XYY sεndrכm gεt כda Y kromozom insay in sεl dεm. dis min se in tכtal nכmba fכ di kromozom dεm na 47 (47,XYY). Dɔktɔ dɛn kin kɔl dis bak XYY fɔ shɔt.
Dis na difrɛns we dɛn bɔn wit . Dat min se na sɔntin we kin apin we di pikin stil de na di bɛlɛ. Bɔt i sɔprayz fɔ no se di sayn dɛm fɔ dis sik kin so klia dat na lɛk 10% pan di pipul dɛm wae gɛt am kin no di sik kɔrɛkt wan. Di we aw di 47,XYY kɔndishɔn de afɛkt ɛnibɔdi difrɛn.
De bɛst tin na, fɔ bɔrku pipul dɛm wae gɛt dis sik:
- di man כmon tεstostεron de prodyuz nכmal wan.
- Sεks divεlכpmεnt kin apin nכmal wan we di pikin de bכn.
- di sεl prodakshכn εn fεtiliti na mכst nכmal tin.
Aw dis sik kin kɔmɔn?
47,XYY sεndrכm na wan kכndyushכn we nכ kin apin. Dɛn se i kin afɛkt lɛk wan pan ɛvri 1,000 bɔy pikin dɛn we dɛn jɔs bɔn.
Wetin na di simptom dɛm fɔ 47,XYY kɔndishɔn?
Dis na di tin we impɔtant pas ɔl. Nɔto ɔlman we gɛt 47,XYY go sho di sem sik. Sɔm pipul dɛn nɔ kin sho ɛni patikyula sayn. Ɔda pipul dɛn kin gɛt wan ɔr mɔr pan dɛn sik ya togɛda. Mɛmba se sɔm pikin dɛn kin gɛt dɛn sik ya we nɔ kin izi fɔ dɛn, na dat mek bɔku tɛm i nɔ kin izi fɔ no.
Di kwaliti dɛm wae kin gɛt fɔ du wit di divɛlɔpmɛnt, bihayvya, ɛn maynd wɛl bɔdi:
- Wae yu de wɔri: Na wae yu de fil ɔltɛm wae yu de frayd ɛn nɔr de fil fayn.
- Asma: Sɔm pikin dɛn kin gɛt asma.
- Atɛnshɔn-dɛfisit/haypa aktiviti disɔda (ADHD): I nɔ kin izi fɔ mek yu pe atɛnshɔn, i kin chenj kwik kwik wan na yu atɛnshɔn, ɛn i kin fid ɔltɛm.
- Ɔtizm spɛktrum disɔda (ASD):Di sayn dɛm lɛk wae i nɔr kin izi fɔ gɛt padi biznɛs wit ɔda pipul dɛm, fɔ tɔk to ɔda pipul dɛm, ɛn fɔ ripit di sem tin bak ɛn bak.
- Prɔblɛm dɛn we pɔsin kin gɛt we i de biev: Sɔntɛnde, i kin vɛks pasmak, i kin trangayes, ɛn i kin vɛks kwik.
- Delay divεlכpmεnt fכ fayn mכtalman skil dεm: fכ egzampl, tek lכng pas כda pikin dεm fכ du tin dεm lεk fכ rayt, kכt wit siza, כ bכtכn shirt.
- Delay divεlכpmεnt fכ tכk εn langwej skil dεm: I kin tek sכm tεm fכ tכk kכhεrent εn כndastand wetin כda pipul dεm de tכk.
- Pwɛl hat: Na wae pɔrsin kin fil fɔ lɔng tɛm wae pɔrsin fil bad ɛn nɔr kin intres pan ɛnitin.
- di tεstikul dεm we big: di tεstikul dεm we big pas nכmal.
- An trem: Na wan kayn we we nɔ de si klia wan we di an dɛn de shek.
- Disabiliti fɔ lan: I nɔ kin izi fɔ ɔndastand ɛn mɛmba skul wok.
- Seizure: Sɔm pipul kin gɛt tin dɛm wae tan lɛk seizure.
Di sayn dɛm we pɔsin kin si na in bɔdi:
- Fɔ lɔng pas di avɛrej: Bɔku tɛm di las ayt kin bi 6 fit 3 inch (1.88 mita) ɔ ivin ay pas dat.
- Big ed (macrocephaly): di ed de sho se i big pas aw i kin bi.
- כrbital haypatεlכrizm: di distans bitwin di yay dεm bכku pas nכmal.
- di mכsul dεm nכ trεnk (hypotonia): Na fכ fil fכ wik na di bכdi, di mכsul dεm we de sכmtεm sכmtεm sכmtεm.
- Clinodactyly: Di smɔl finga kin kɔba insay .
- Big pas nכmal tit dεm (macrodontia): Tit dεm we big pas nכmal in saiz.
- כndabayt: We di lכw sεt כf tit dεm de bifo di כp sεt כf tit dεm we dεn kכloz di tit dεm .
- Flat fut (pes planus): Flat fut we nɔ gɛt kɔba.
- Skoliosis: Yu kin si wan sayd we di spayna kɔba.
Impɔtant: Nɔto ɔlman go gɛt ɔl dɛn sik ya. Sɔm pipul dɛn kin gɛt sɔm pan dɛn nɔmɔ, ɔ dɛn nɔ kin gɛt ɛni wan pan dɛn atɔl. Dɔn bak, dɛn sik ya kin kam bikɔs ɔf ɔda tin dɛn. So, no tek am wantɛm se yu gɛt 47,XYY we yu si sɔntin lɛk dis.
sכm – bכt nכto כl – man dεm we gεt di 47,XYY kכndishכn kin gεt difεlεbl fכ bεlε pikin bikoz fכ lכw sεl kכnt (oligospermia) כ כda sεl prכblεm.
Wetin de mek 47,XYY?
Fɔ tɔk am simpul wan, dis na bikɔs ɛkstra Y kromozom de na di jɛnɛtik kɔd. dis chenj de apin bifo dεn bכn di pikin, we i stil de na di bεlε. I kin apin tu we dɛn:
1. 1. 1. .dis na wetin kin apin: wan pan di papa in sεl dεm gεt εkstra Y kromozom. we dis sεl sεl fεtilayz wan pan di mama in eg dεm, εvri sεl na di εmbrayo we de kכmכt gεt di εkstra Y kromozom.
2. wan kכndyushכn we nכ kin kכmכn na dis: we di εmbrayo de divεlכp di εli, di sεl dεm de sheb abnכmal wan. Dɔktɔ dɛn kɔl dis 46,XY/47,XYY mosaicism . we dis apin, na sכm pan di bכdi sεl dεm nכmכ gεt di εkstra Y kromozom.
Dis nɔto sɔntin we di mama gɛt frɔm di papa. Dis rili impɔtant. כl di tεm dεm, di εkstra Y kromozom de kriyayt bay chans, bikoz fכ wan mistek we de insay di prכsεs fכ mek di papa in sεl dεm. dis kכndyushכn kin apin we wan sεl we gεt tu Y kromozom dεn jכyn eg wit wan X kromozom.
Risach pipul dεm stil nכ no εksεkεkt wetin mek dεn kromozom chenj dεm ya kin apin. I tan lɛk se dɛn kin apin bay wilful. i nכ klia bak aw fכ gεt εkstra Y kromozom de lεnk to sכm pan di kכndishכn dεm εn fכshal trayt dεm we wi bin dכn tכk bכt.
Aw fɔ no 47,XYY kɔndishɔn?
Tu men we de fɔ no 47,XYY:
- Bifo yu bɔn (we yu gɛt bɛlɛ): If yu gɛt tɛst we yu gɛt bɛlɛ, lɛk Noninvasive Prenatal Testing (NIPT) , CVS (Chorionic Villus Sampling) , ɔ Amniocentesis , yu kin no if ɛni chenj de na di kromozom dɛn na di pikin.
- afta dεn bכn am: jεnεtik tεst kin kכnfכm if di 47,XYY kכndishכn de.
Bɔt i sɔprayz fɔ no se di wan dɛn we de stɔdi bɔt dis sik se bitwin 85% ɛn 90% pan di pipul dɛn we gɛt 47,XYY nɔ kin ɛva no se dɛn gɛt dis sik. Dat na bikɔs bɔrku tɛm de sik nɔr kin kɔz ɛni klia sayn ɔr prɔblɛm. Dɔn bak, bikɔs di kɔndishɔn dɛn we gɛt fɔ du wit am (lɛk ADHD ɛn disabiliti fɔ lan) kin kɔmɔt frɔm ɔda kɔndishɔn, fɔ trit dɛn kin mis di ɔndalayn kɔz, 47,XYY. Ivin we dɛn no se pɔsin gɛt 47,XYY, bɔku tɛm i kin tu let. Di avrej ej fɔ no di sik na lɛk 17 ia.
Wetin na di tritmɛnt dɛm fɔ 47,XYY?
Dis na sɔntin we wi nid fɔ ɔndastand. Nɔ dairekt tritmɛnt ɔ mɛrɛsin nɔ de fɔ 47,XYY bikɔs na jɛnɛtik kɔndishɔn. Bɔt dɛn kin yuz mɛdikal sɔpɔt ɛn ɔda tin dɛn fɔ ɛp fɔ manej ɔda kɔndishɔn ɛn kɔmplikeshɔn dɛn we kin kam frɔm dis kɔndishɔn.
Fɔ ɛgzampul:
- Spich therapy: I de ɛp if dilɛys de fɔ tɔk ɛn langwej divɛlɔpmɛnt.
- Fizik tɛrapi ɛn ɔkupeshɔn tɛrapi: I de ɛp wit di mɔsul dɛm we wik ɛn fayn fayn motoka prɔblɛm.
- Speshal Edukeshon Risos:Dɛn kin ɛp pikin dɛn we gɛt prɔblɛm fɔ lan na skul tru tin dɛn lɛk Individualized Education Plan (IEP) .
- Saykotɛrapi: I kin ɛp wit mɛntɛl hεlth prɔblɛm (lɛk wae yu de wɔri ɛn pwɛl hat) ɛn wae yu gɛt prɔblɛm wit yu bihayvya.
- Mɛrɛsin: Dɛn kin gi mɛrɛsin fɔ di sik dɛn we pɔsin kin gɛt na in bɔdi lɛk asma ɛn epilepsy.
- Dɛn kin trit yu tit: Dɛn kin trit yu tit prɔblɛm (lɛk big tit, di ɔnda jaw we de kɔmɔt na do).
- if yu de gεt difεlεbl fכ bεlε pikin: Yu kin sכk εp tru tεknik dεm lεk `In vitro fεtilayzεshכn (IVF)` כ `Intracytoplasmic sperm injection (ICSI)` .
wetin a fo du if a fain out se mi pikin geht di 47,XYY kondishon?
If yu no we yu gɛt bɛlɛ se yu pikin gɛt dis sik, yu go shɔk ɛn fred. Dat na nɔmal tin. Bɔt mɛmba se di we aw dis sik kin afɛkt ɛnibɔdi rili difrɛn. Bɔrku pipul kin liv nɔrmal layf wit smɔl prɔblɛm ɔr nɔr kin gɛt prɔblɛm. I nɔ pɔsibul fɔ tɔk klia wan aw yu pikin go afɛkt. Bɔt di mɔ we yu no bɔt di bad tin dɛn we kin apin to yu pikin, na di mɔ yu kin rɛdi.
Yu pikin in dɔktɔ go mɔs tek "wet ɛn si" we. Dis min se yu fɔ pe atɛnshɔn gud gud wan to yu pikin in divɛlɔpmɛnt ɛn bihayvya, ɛn tek di rayt akshɔn if dɛn notis ɛni delay ɔ prɔblɛm (e.g., delay fɔ tɔk, ADHD simptom dɛm, prɔblɛm fɔ lan).
Jɔs lɛk ɛni pikin, i impɔtant fɔ pe atɛnshɔn to yu pikin in bɔdi, in maynd, aw i de fil, ɛn aw i de biev. If yu notis ɛni chenj na yu pikin, tɔk to yu dɔktɔ bɔt am. If prɔblɛm de, di kwik we yu kin ɛp ɔ bigin fɔ trit am, na di mɔ i go fayn fɔ di pikin.
Tipikli, pikin dεm we gεt 47,XYY de liv nכmal layf. Sɔntɛnde, dɛn kin nid fɔ gɛt ɛkstra sɔpɔt ɔ fɔ go to dɔktɔ pan sɔm say dɛn. Bɔt bɔku pikin dɛn we nɔ gɛt 47,XYY kin nid dis kayn ɛp bak sɔntɛnde.
Wetin if a fain out se a geht 47,XYY na yong ej o as big man?
If yu kam fɔ no se yu gɛt dis sik, ilɛksɛf yu yɔŋ ɔ leta, yu go sɔprayz ɛn wɔri. Yu go gɛt bɔku kwɛstyɔn dɛn. Dat na nɔmal tin. Yu dɔktɔ go tɛl yu mɔ bɔt dis sik. Yu kin si se dis sεndrכm de "εksplen" sɔm pan de εkspiriεns dεm na yu layf. Ɔ, i kin jɔs bi ɔda we aw dɛn de tɔk bɔt yu.
If i pɔsibul, tray fɔ fɛn sɔpɔt grup wit ɔda pipul dɛn we gɛt 47,XYY. Dis we ya yu kin lan mɔr bɔt am ɛn fil lɛk se yu nɔr de yu wan wit dis diagnosis.
Impɔtant tin na dat, fɔ gɛt 47,XYY nɔ de mek di chans fɔ mek yu pikin gɛt am bɔku. 47,XYY nɔto inhɛrit kɔndishɔn. Pan ɔl we sɔm pipul dɛn we gɛt 47,XYY kin gɛt prɔblɛm fɔ bɔn pikin, bɔku pan dɛn nɔ kin gɛt am. If yu de wɔri bɔt dis, tɔk to yu dɔktɔ.
Wetin na de layf ɛkspɛkt fɔ pɔrsin wae gɛt 47,XYY kɔndishɔn?
Wan stɔdi dɔn sho se man dɛm wae gɛt di 47,XYY kɔndishɔn kin gɛt layf ɛkspɛkteshɔn fɔ lɛk 10 ia less pas ɔda man dɛm. Risach pipul dɛm biliv se dis kin bi bikɔs di sik kin kam wit ɔda mɛrɛsin (lɛk asma ɛn epilepsy) ɛn prɔblɛm wit aw pɔsin de biev (lɛk impuls kɔntrol dizayd).
So, if yu tek kia ɔf yu wɛlbɔdi biznɛs ɛn fala yu dɔktɔ in advays, dat kin ɛp fɔ mek yu liv lɔng mɔ ɛn mɔ. Si yu dɔktɔ ɔltɛm ɛn du di tɛst dɛn we yu nid.
Yu tink se dɛn kin mek 47,XYY nɔ apin?
Bɔt i sɔri fɔ no se natin nɔ de we yu go du fɔ mek dis nɔ apin. di ekstra Y kromozom de kכz fכ wan random ivent.
Fɔ dɔn, tin dɛn fɔ mɛmba (Take-Home Message) .
Na nɔmal tin fɔ fil bad we yu kam fɔ no se yu ɔ yu pikin gɛt kromozom kɔndishɔn lɛk XYY sindrom. If yu nɔ no gud gud wan aw dis sik go afɛkt yu layf, dat kin mek yu at pwɛl. Bɔt nɔ wɔri . Yu dɔktɔ dɛn de ya fɔ ɛp.
Ilɛksɛf dɛn bin no se yu gɛt dis sik we yu bin smɔl ɔ we yu bin dɔn big, fɔ no bɔt di prɔblɛm dɛn we yu kin gɛt ɛn di tritmɛnt dɛn we yu kin gɛt, dat kin rili ɛp yu fɔ liv yu layf. Di tin we impɔtant pas ɔl na dat dis nɔto ɛnibɔdi in fɔlt, mɔ nɔto yu mama ɛn papa in fɔlt. Wit de sɔpɔt ɛn ɔndastandin wae yu nid, yu kin liv fayn fayn wan wit dis sik. If yu gɛt ɛni dawt, nɔ shem fɔ go to dɔktɔ.
` 47, XYY sεndrכm, Jacobs sεndrכm, jεnεtik kכndishכn, man hεlth, divεlכpmεnt dilay, lanin disabiliti, kromozom dizכrd











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