Kuenzanisa Trisomy, Translocation, uye Mafomu Maitiro eChiitiko
Iwe unogona kunge uchiziva kuti Down syndrome inobereka chimiro chinokonzera zvakasiyana zvakasiyana siyana zvekunyama uye kukurumidza kunonoka. Mushure mezvose, zvinowanzoitika: National Down Syndrome Society (NDSS) inotaura pa webhusaiti yayo iyo inenge imwe muvana vana 700 inoberekwa nemamiriro acho ezvinhu.
Asi waiziva here kuti kune marudzi akasiyana eA Down syndrome, ose ayo anosanganisira ma 21 chromosomes?
Rudzi rwakanyanya kunyanya, trisomy 21 , runokonzera 95 muzana yeArt syndrome case. Munenge mazana mana muzana anonzi translocation Down syndrome, uye inosara imwe yezana, maricism. Heino kutarisa kwenguva pfupi kuti marudzi matatu eA Down syndrome anofananidza sei.
Trisomy 21 Down Syndrome
Kazhinji vanhu vanogara makumi maviri nemaviri emakromosomes kubva kumadzimai uye baba navose vanokwana 46. Zvisinei, vanhu vane trisomy Down syndrome vanomira nema 47 chromosomes nekuti vanowana imwe yeropa yekromosome 21. Izvi zvinoitika kana ma-chromosomes kubva kune yai kana kuti mbeu inokundikana kuparadzana.
Translocation Down Syndrome
Translocation Down syndrome inowanikwa apo ma chromosomes maviri, rimwe rawo riri nhamba 21, vanobatana pamwechete pamagumo avo. Panzvimbo yekuva nematatu akazvimiririra, akaparadzaniswa nhamba 21 ma chromosomes, munhu ane translocation Down syndrome ine maviri akasiyana-siyana ema kromosomes 21 uyewo chromosome nhamba 21 inowanikwa kune imwe chromosome.
Iyo yakabatana nemakromosomes inonzi ma chromosomes anobva. Dzimwe nguva chromosome inotora nhaka inobva kumubereki, asi inogonawo kuitika kwekutanga kune munhu ane Down syndrome. (Izvi zvinozivikanwa se de novo translocation). Apo mwana anoonekwa kuti ane translocation Down syndrome, zvakakosha kuti vabereki vake vane karyotype kuongororwa kuona kana mumwe wavo akatakura translocation, sezvo inogona kudarika kune mumwe mwana.
Kunyangwe kutapurirwa Down syndrome inoitika nenzira yakasiyana kune trisomy 21, zvinhu uye zvinhu zvinoratidza chimiro chacho zvakafanana.
Mosaic Down Syndrome
Mucheche Down syndrome , kwete masero ose mumuviri ane 46 chromosomes. Pane kudaro, chikamu chemasero chinogona kuva nema-chromosomes 47, ane kopi yekromosome 21.
Somuenzaniso, mumuenzaniso we 20 masero eropa kubva kumwana ane mosaic Down syndrome, masero gumi anogona kunge ane chromosome yakawanda 21 (47 chromosomes total) asi imwe yemasero aya haaiti. Kubva pane izvi zvinotarisirwa, mwana wacho angave ane mosaicism ye50 muzana. Kana iyi sampuro yeropa yaiva mumiririri weropa rose, ipapo hafu yemasero muropa remwana uyu angave akaenzana, uye imwe hafu inenge ine chromosome yakawedzerwa.
Nhamba yemunhu ye mosaicism inopesana nemuenzaniso wezvisikwa zvinotora. Semuenzaniso, muenzaniso weganda unogona kuratidza imwe nzira yakasiyana yekunyora mifananidzo kubva pamuenzaniso wehupi hwehupi kubva kumunhu mumwe chete. Chero zvazvingava, vanhu vane ruzivo rwemasikisi vanowanzove vasina zvido zvishoma nezvimwe zvinhu, kunyange zvazvo kune ani zvake, hazvigoneki kuita zvizere zvakakwana.