Noma ubani othi "trisomy" kusho "trisomy 21" noma Down syndrome. Nokho, i-trisomy iwukungajwayelekile kwe-chromosomal noma i-aneuploidy (okungajwayelekile enanini lama-chromosome). Ngakho-ke ingathinta noma yimaphi amapheya ethu angu-23 ama-chromosome. Uma ithinta i-pair 21, sikhuluma nge-trisomy 21, evame kakhulu. Lesi sakamuva sibonwa ngokwesilinganiso ngesikhathi sokukhulelwa okungu-27 kwabangu-10.000, ngokusho kweSigungu Esiphezulu Sezempilo. Uma ithinta i-pair 18, i-trisomy 18. Futhi njalo. I-Trisomy 22 iyivelakancane kakhulu. Ezikhathini eziningi, ayinakusimama. Izincazelo noDkt Valérie Malan, isazi se-cytogeneticist emnyangweni we-Histology-Embryology-Cytogenetics we-Necker Hospital for Sick Children (APHP).

I-Trisomy 22, njengamanye ama-trisomies, iyingxenye yomndeni wezifo zofuzo.

Umzimba womuntu ulinganiselwa ukuthi unamaseli aphakathi kwezigidigidi eziyi-10.000 neziyi-100.000. La mangqamuzana ayiyunithi eyisisekelo yezinto eziphilayo. Engqamuzaneni ngayinye, i-nucleus, equkethe ifa lethu lofuzo elinamapheya angu-23 ama-chromosome. Okusho ukuthi, esewonke, ama-chromosome angama-46. Sikhuluma nge-trisomy lapho elinye lamapheya lingenawo ama-chromosome amabili, kodwa amathathu.

“Ku-trisomy 22, sigcina sine-karyotype enama-chromosome angu-47, esikhundleni sika-46, namakhophi angu-3 e-chromosome 22”, kugcizelela uDkt Malan. “Le chromosomal anomaly iyivelakancane kakhulu. Angaphansi kwama-50 amacala ashicilelwe emhlabeni jikelele. “Lokhu kungavamile kwe-chromosomal kuthiwa” kuyafana “uma kukhona kuwo wonke amaseli (okungenani lawo ahlaziywe elabhorethri).

Ziyi-"mosaic" uma zitholakala kuphela engxenyeni yamaseli. Ngamanye amazwi, amaseli anama-chromosome angu-47 (okuhlanganisa nama-chromosome angu-3 22) ahlala kanye namaseli anama-chromosome angu-46 (okuhlanganisa nama-chromosome angu-2).

“Imvamisa iyanda ngokuya ngeminyaka komama. Lesi yisici esiyinhloko sengozi eyaziwayo.

“Ezimweni eziningi, lokhu kuyophumela ekuphuphumeni kwesisu,” kuchaza uDkt. “Ukungajwayelekile kweChromosomal kuyimbangela yokuphuphuma kwezisu okungaba ngu-50% okwenzeka ku-trimester yokuqala yokukhulelwa,” kuphawula i-Public Health France esizeni sayo i-Santepubliquefrance.fr. Eqinisweni, ama-trisomies amaningi angu-22 agcina ngokuphuphuma kwesisu ngoba umbungu awukwazi ukuphila.

“Ama-trisomies angama-22 kuphela asebenzayo yilawo amosaic. Kodwa le trisomy iza nemiphumela emibi kakhulu. "Ukukhubazeka kwengqondo, ukukhubazeka kokuzalwa, ukungahambi kahle kwesikhumba, njll."

“Ngokuvamile, ama-mosaic trisomies 22 yiwona avame kakhulu ngaphandle kokuphuphunyelwa yizisu. Lokhu kusho ukuthi i-chromosomal engavamile ikhona kuphela engxenyeni yamaseli. Ubukhulu besifo buncike enanini lamaseli ane-Down's syndrome nalapho lawa maseli atholakala khona. “Kuneziguli ezikhethekile ze-Down's syndrome ezitholakala ku-placenta. Kulezi zimo, i-fetus ayilimele ngoba lokhu okungavamile kuthinta i-placenta kuphela. “

“Le nto ebizwa nge-homogeneous trisomy 22 inqabile kakhulu. Lokhu kusho ukuthi ukungavamile kwe-chromosomal kukhona kuwo wonke amaseli. Ezimweni ezingavamile lapho ukukhulelwa kuqhubeka, ukusinda kuze kube sekubelethweni kufushane kakhulu. “

I-Mosaic trisomy 22 ingaholela ekukhubazekeni okuningi. Kunokuhlukahlukana okukhulu kwezimpawu kumuntu nomuntu.

“Kubonakala ngokukhubazeka ngaphambi nangemva kokubeletha, ukushoda kwengqondo okunamandla, i-hemi-atrophy, ukungezwani kombala wesikhumba, ukungasebenzi kahle kobuso kanye nokungahambi kahle kwenhliziyo”, imininingwane Orphanet (ku-Orpha.net) , ingosi yezifo ezingavamile nezidakamizwa zezintandane. “Kubikwe ukuthi ungezwa kahle nezitho zomzimba, izinso nezitho zangasese zibikiwe. “

“Izingane ezithintekayo zibonwa ngolibofuzo. Ukuxilongwa kuvame ukwenziwa ngokwenza i-karyotype kusuka ku-biopsy yesikhumba ngoba i-anomaly ayitholakali egazini. “I-Trisomy 22 ivamise ukuhambisana nokungajwayelekile kokushintsha umbala. “

Alikho ikhambi le-trisomy 22. Kodwa ukuphathwa “kwemikhakha eminingi” kuthuthukisa izinga lempilo, futhi kwandisa iminyaka yokuphila.

“Ngokuya ngokukhubazeka okutholakele, ukwelashwa kuzokwenziwa okomuntu siqu. »Udokotela wezofuzo, udokotela wenhliziyo, udokotela wezinzwa, udokotela wezinkulumo, uchwepheshe we-ENT, udokotela wamehlo, udokotela wesikhumba… kanye nabanye ochwepheshe abaningi bazokwazi ukungenelela.

“Mayelana nesikole, kuzoshintshwa. Umqondo uwukusungula ukwesekwa ngokushesha ngangokunokwenzeka, ukuthuthukisa amakhono alezi zingane ngangokunokwenzeka. Njengengane evamile, ingane ene-Down's syndrome izophaphama uma ishukunyiswa kakhudlwana.