Ho bapisa Trisomy, Translocation, le Melao ea Boemo ba Boemo
Mohlomong ua tseba hore Down syndrome ke liphatsa tsa lefutso tse hlahisang litšobotsi tse sa tšoaneng tse fapaneng le ho lieha ho ntlafatsa. Ha e le hantle, ho tloaelehile haholo: National Down Syndrome Society (NDSS) e re ho websaeteng ea eona hoo hoo e batlang e le e mong ho masea a 700 a tsoaloa a e-na le bothata.
Empa na u ne u tseba hore ho na le mefuta e sa tšoaneng ea Down syndrome, kaofela ha eona e amanang le li-chromosome tse peli?
Mofuta o tloaelehileng ka ho fetisisa, trisomy 21 , o ikarabella bakeng sa karolo ea 95 lekholong ea linyeoe tsa Down syndrome. Hoo e ka bang karolo ea bone lekholong e bitsoa translocation Down syndrome, le karolo e setseng ea karolo, e leng mosaicism. Mona o shebisisa ka bokhutšoanyane kamoo mefuta e meraro ea Down syndrome e bapisoang kateng.
Trisomy 21 Down Syndrome
Ka tloaelo batho ba futsaneha lihlopha tse 23 tsa li-chromosome ho tloha ho 'mè le ntate ka kakaretso ea 46. Leha ho le joalo, batho ba nang le lefu la Down syndrome ba na le li-chromosome tse 47 hobane ba fumana kopi e eketsehileng ea chromosome 21. Sena se etsahala ha bobeli ba li-chromosome li-chromosome tse tsoang ho lehe kapa peō li hlōleha ho arohana.
Translocation Down Syndrome
Phetoho ea Downlocation Down e etsahala ha li-chromosome tse peli, e 'ngoe ea tsona e le palo ea 21, li kopane hammoho qetellong ea tsona. Ho e-na le ho ba le li-chromosome tse lekaneng tse tharo tse ikemetseng, tse fapaneng, motho ea nang le syndrome ea translocation Down syndrome o na le li-chromosome tse peli tse ikemetseng tse 21 hammoho le chromosome ea nomoro e 21 e khomaretsoeng kromosome e 'ngoe.
Li-chromosome tse amanang li bitsoa li-chromosome tse nkiloeng. Ka linako tse ling kromosome e tsoang ho motsoali e futsitsoe, empa e ka boela ea etsahala ka lekhetlo la pele ho motho ea nang le Down syndrome. (Sena se tsejoa e le de novo translocation). Ha lesea le fumanoa le na le translocation Down syndrome, ke habohlokoa hore batsoali ba hae ba na le liteko tsa karyotype ho bona hore na e mong oa bona o na le translocation, hobane e ka fetisetsoa ho ngoana e mong.
Le hoja translocation Down syndrome e etsahala ka mokhoa o fapaneng ho feta trisomy 21, 'mele le likarolo tse bontšang boemo ba tsona li tšoana.
Mosaic Down Syndrome
Ka mosaic Down syndrome , hase lisele tsohle tsa 'mele tse nang le li-chromosome tse 46. Ho e-na le hoo, karolo ea lekholo ea lisele e ka ba le li-chromosome tse 47, e nang le kopi e eketsehileng ea chromosome 21.
Ka mohlala, ka sampuli ea lisele tse 20 tsa mali ho tloha ho lesea le nang le mosadi oa Down syndrome, lisele tse 10 li ka ba le kromosome e eketsehileng 21 (li-chromosome tse 47 ka kakaretso) ha tse ling tse leshome tsa lisele tsena li sa etse joalo. E itšetlehile ka lintlha tsena, lesea le ka ba le karolo ea 50 lekholong ea mosaicism. Haeba sampula ena ea mali e ne e emela mali ka kakaretso, joale halofo ea lisele tsa mali a ngoana enoa e ne e tla ba e tloaelehileng, 'me halofo e' ngoe e ne e tla ba le chromosome e eketsehileng.
Mefuta ea motho ea mosaicism e fapana ho itšetlehile ka mohlala oa mefuta ea lisele. Ka mohlala, mohlala oa letlalo o ne o ka bontša mefuta e fapaneng ea mosaicism ho tloha mehlala ea lisele tsa boko ho motho a le mong. Ho sa tsotellehe boemo leha e le bofe, batho ba nang le mosaicism hangata ba na le litšobotsi tse seng kae tsa boitšoaro le litšoaneleho tse ling, le hoja ho le mang kapa mang, ho ke ke ha khoneha ho etsa tse ling tse fapaneng.