Aliyense amene amati "trisomy" amatanthauza "trisomy 21" kapena Down syndrome. Komabe, trisomy ndi chromosomal abnormality kapena aneuploidy (zosazolowereka mu kuchuluka kwa ma chromosome). Chifukwa chake imatha kukhudza iliyonse mwa ma chromosome athu 23. Zikakhudza awiri 21, timalankhula za trisomy 21, yodziwika kwambiri. Zotsirizirazi zimawonedwa pafupipafupi pakati pa 27 pakati pa 10.000, malinga ndi High Authority of Health. Zikakhudza awiri 18, ndi trisomy 18. Ndi zina zotero. Trisomy 22 ndiyosowa kwambiri. Nthawi zambiri zimakhala zosakhazikika. Kufotokozera ndi Dr Valérie Malan, cytogeneticist mu Histology-Embryology-Cytogenetics dipatimenti ya Necker Hospital for Sick Children (APHP).

Trisomy 22 ndi, monga ma trisomies ena, gawo la banja la matenda amtundu.

Thupi la munthu likuyembekezeka kukhala ndi ma cell pakati pa 10.000 ndi 100.000 biliyoni. Maselo amenewa ndi mbali yaikulu ya zamoyo. Mu selo lililonse, phata, lomwe lili ndi chibadwa chathu chokhala ndi ma chromosomes 23. Ndiko kuti, palimodzi, ma chromosomes 46. Timalankhula za trisomy pamene imodzi mwa awiriwa ilibe ma chromosome awiri, koma atatu.

"Mu trisomy 22, timakhala ndi karyotype yokhala ndi ma chromosome 47, m'malo mwa 46, okhala ndi makope atatu a chromosome 3", akutsindika Dr Malan. "Kusokoneza kwa chromosomal kumeneku ndikosowa kwambiri. Milandu yochepera 22 yasindikizidwa padziko lonse lapansi. "Zolakwika za chromosomal izi zimanenedwa kukhala" zofanana "zikakhala m'maselo onse (osachepera omwe amawunikidwa mu labotale).

Iwo ndi "mosaic" pamene iwo amangopezeka mu gawo la maselo. Mwanjira ina, ma cell okhala ndi ma chromosome 47 (kuphatikiza 3 chromosomes 22) amakhala ndi ma cell okhala ndi ma chromosome 46 (kuphatikiza 2 chromosomes 22).

"Kuchuluka kumawonjezeka ndi zaka za amayi. Ichi ndiye chachikulu chomwe chimadziwika pachiwopsezo.

Dr. Malan anati: “Nthaŵi zambiri zimenezi zimachititsa kuti munthu apite padera. "Kuwonongeka kwa chromosomal ndiko kumayambitsa pafupifupi 50% ya kutayika kwa padera komwe kumachitika mkati mwa trimester yoyamba ya mimba," ikutero Public Health France patsamba lake la Santepubliquefrance.fr. M'malo mwake, ma trisomies ambiri 22 amatha kupita padera chifukwa mluza sungatheke.

"Ma trisomies 22 okha omwe ali ndi mphamvu ndi ma mosaic. Koma trisomy imeneyi imabwera ndi zotsatira zoopsa kwambiri. “Lumala laluntha, zilema zobadwa nazo, kusokonekera kwapakhungu, ndi zina zotero.

"Nthawi zambiri, ma trisomies a mosaic 22 ndi omwe amapezeka kwambiri kupatula kupititsa padera. Izi zikutanthauza kuti vuto la chromosomal limapezeka m'gawo lina la maselo. Kuopsa kwa matendawa kumadalira kuchuluka kwa maselo omwe ali ndi Down's syndrome komanso komwe maselowa ali. “Pali matenda apadera a Down's Syndrome omwe amangopita ku placenta. Zikatere, mwana wosabadwayo savulazidwa chifukwa chosowacho chimakhudza thumba lokhalo. “

"Zomwe zimatchedwa homogeneous trisomy 22 ndizosowa kwambiri. Izi zikutanthauza kuti kusakhazikika kwa chromosomal kuli m'maselo onse. Muzochitika zapadera zomwe mimba imakula, kupulumuka mpaka kubadwa kumakhala kochepa kwambiri. “

Mosaic trisomy 22 imatha kubweretsa zilema zambiri. Pali kusiyana kwakukulu kwa zizindikiro kuchokera kwa munthu ndi munthu.

"Amadziwika ndi kuchepa kwa kukula kwa mwana asanabadwe komanso pambuyo pobereka, kuperewera kwanzeru, hemi-atrophy, zowoneka bwino pakhungu, kusokonekera kwa nkhope ndi matenda amtima", tsatanetsatane wa Orphanet (pa Orpha.net) , malo owonetsera matenda osowa ndi mankhwala amasiye. “Kuwonongeka kwa kumva ndi kufooka kwa miyendo kwanenedwa, komanso kuphwanya kwa impso ndi kumaliseche. “

"Ana okhudzidwa amawonedwa pokambirana za majini. Matendawa nthawi zambiri amapangidwa popanga karyotype kuchokera pakhungu la biopsy chifukwa chosokoneza sichipezeka m'magazi. "Trisomy 22 nthawi zambiri imatsagana ndi zovuta zamtundu wamtundu. “

Palibe mankhwala a trisomy 22. Koma kasamalidwe ka "multidisciplinary" kumapangitsa moyo kukhala wabwino, komanso kumawonjezera chiyembekezo cha moyo.

"Kutengera ndi zolakwika zomwe zapezeka, chithandizocho chizikhala chamunthu. »katswiri wa majini, cardiologist, neuropathologist, ENT, ENT, ophthalmologist, dermatologist ... ndi akatswiri ena ambiri adzatha kulowererapo.

“Ponena za maphunziro, zidzasinthidwa. Lingaliro ndilokhazikitsa chithandizo mwamsanga, kukulitsa luso la ana awa momwe zingathere. Mofanana ndi mwana wamba, mwana amene ali ndi matenda a Down syndrome amakhala tcheru ngati atakanthidwa kwambiri.