El Síndrome de Down Lutshintsho oluqhelekileyo lwemfuza oluphawulwa bubukho bekopi eyongezelelweyo yechromosome 21, ebangela uthotho lweengxaki zomzimba kunye nophuhliso. Le nto yenzeka ngexesha leenkqubo zokubunjwa kweeseli zomntu. Kweli nqaku, siza kujonga nzulu Ibangelwa njani i-Down syndrome? umjikelo weseli?, ukuqonda indlela yokuphuhliswa kwetrisomy 21. Siza kuhlalutya izigaba yomjikelo weseli, utshintsho olwenzeka kule nkqubela kunye nendlela abanegalelo ngayo kwisizukulwana sesi sifo.
Olu hlaziyo luza kusivumela ukuba sifumane imbono ecacileyo kunye nechanekileyo yolu tshintsho lwemfuza, ukusivumela ukuba singaqondi nje imvelaphi yayo, kodwa sisebenze kuphando oluhlukeneyo kunye nezicwangciso zonyango. Kubalulekile ukugxininisa ukuba le yinkalo yokuziphendukela kwemvelo rhoqo, apho iziphumo zenzululwazi kunye nezonyango ziqhubeka zivelisa ukuqonda okungcono genoma humano kunye nokwahluka kwayo. Kungenxa yolu lwazi ukuba sikwazi ukuqhubeka sisiya kukhathalelo lwezonyango olungcono kunye nomgangatho wobomi babantu abane-Down syndrome.
1. Yintoni i-Down Syndrome kwaye iveliswa njani ngexesha lomjikelo weseli?
El Síndrome de Down Yimeko yofuzo edla ngokwenzeka kumntwana omnye kwabangama-700 abazalwayo Sisiphumo sekhromozomu eyongezelelweyo kwisibini esingunombolo 21, esikhokelela kwiichromosome ezingama-47 endaweni yama-46 eqhelekileyo. Le chromosome yongezelelweyo itshintsha ukukhula okuqhelekileyo komzimba kunye nengqondo. Iimpawu zinokwahluka ngokobukhulu kunye neempawu ukusuka komnye umntu ukuya komnye, kodwa ngokuqhelekileyo ziquka ukukhubazeka kwengqondo kunye neempawu ezibonakalayo ezifana namehlo ajonge phezulu, ubude obufutshane, kunye nokuhla kwethoni yezihlunu.
Le chromosome yongeziweyo ngokuqhelekileyo ivela ngexesha lokwenziwa kwe amaqanda kunye namadlozi, kwisigaba somjikelo weseli ebizwa meiosis. Durante le nkqubo, iiseli zesini ziyenziwa ngesiqingatha senani eliqhelekileyo lekhromozomi. Nangona kunjalo, ngamanye amaxesha iimpazamo ziyenzeka kwaye i-chromosome ayahlukani ngokuchanekileyo, ishiya iseli yesondo enechromosome eyongezelelweyo Kwimeko ye-Down Syndrome, le chromosome eyongezelelweyo yeyesibini sama-21.
Inkqubo eyenza i-trisomy 21, igama lezenzululwazi le-Down Syndrome, ayikhethi ngokupheleleyo kwaye ayinxulumananga nawuphi na umsebenzi okanye umkhwa othile wabazali. Nangona amathuba okuba tener un hijo kunye nale meko iyanda kunye nobudala bomama, uninzi lwabantwana Abane-Down Syndrome bazalwa ngoomama abangaphantsi kweminyaka engama-35 ubudala, kuba amabhinqa amaninzi kweli qela anabantwana. Ukufumana ulwazi oluthe kratya ngalo mbandela, ungandwendwela inqaku lethu malunga oonobangela be-Down syndrome.
2. Ubalo lwemfuzo kunye neChromosome Anomaly: Isiseko esiPhambili seDown Syndrome
I-Down syndrome Yimeko yofuzo eyenzeka xa kukho ikopi eyongezelelweyo yechromosome 21. Olu tshintsho lusisiphumo sesiganeko esibizwa ngokuba yichromosome XNUMX. non-disjunction, eyenzeka ngexesha lokuhlukana kweeseli. Uninzi lweeseli zomntu zinezibini ezingama-23 zeechromosomes. Kodwa kubantu abane-Down syndrome, iiseli zihlala zineekopi ezintathu zechromosome 21 endaweni yezimbini.
I-non-disjunction idla ngokuvela njengengozi ngexesha lokubunjwa kweqanda okanye isidoda. Njengoko kuvela, endaweni yeechromosomes ezingama-23 eziqhelekileyo kwiqanda kunye nesidoda, enye yazo ithwala ichromosome eyongezelelweyo. Xa eli qanda okanye idlozi elinechromosome eyongezelelweyo lidibana nedlozi eliqhelekileyo okanye i-ovum, kuphumela kwi-ovum okanye idlozi elineechromosomes ezingama-24. Ukuba eli qanda liyaqhama lize libe yi-embryo, i-embryo iya kuba ne-chromosome eyongezelelweyo yesibini sama-21 kwiseli nganye yayo, ibangele Síndrome de Down.
Ngaphandle kwemeko eqhelekileyo eyi-trisomy 21, kukho ezinye iintlobo ze-Down Syndrome: i-mosaicism kwaye i translocación. Kwi mosaicismo, ezinye iiseli zineekopi ezimbini zechromosome 21 yaye ezinye zinesithathu. Kwimeko ye translocación, kwenzeka xa inxalenye yechromosome 21 ikhutshelwa ngexesha lokwenziwa kweeseli ukuya kwenye ichromosome. Ezi meko aziqhelekanga, kodwa azibalulekanga kangako. Ngolwazi oluthe kratya malunga nezi iinkqubo unokufunda ngakumbi kwi iinkqubo zofuzo Down syndrome. Kubaluleke kakhulu ukuqonda ukuba, kungakhathaliseki ukuba luhlobo luni lwe-Down Syndrome, umthwali uneempawu ezizodwa kunye nezikhethekileyo zofuzo. Umntu ngamnye wahlukile kwaye unobuchule kunye neempawu ezibenza bakhetheke.
3. Indima ye-Meiosis kuPhuhliso lwe-Down Syndrome
La I-Meiosis yiyona nto ijongene nokuphuhliswa kwe-Down syndrome. kwiiseli. Ngexesha ukwahlukana kweseli ekuyilweni kweqanda okanye isidoda, impazamo eyaziwa ngokuba kukungadibani ingenzeka. Oku kubangela ukuba iperi yeechromosomes ezingama-21 zingohlukani ngokuchanekileyo, okukhokelela kwidlozi okanye iqanda elinechromosome eyongezelelweyo engama-21. Xa kuthiwa iqanda okanye idlozi lidibana nelinye eliqhelekileyo ngexesha lokuqhama, i-embryo yenziwa ngeekopi ezintathu zechromosome 21 endaweni yezimbini eziqhelekileyo. Le meko ibizwa ngokuba yi-trisomy 21, oyena nobangela weDown syndrome.
Ewe kulungile Izinto ezikhuthaza ukungadibanisi zisengumxholo wokufunda, ezinye izazinzulu zithi ubudala bukamama bunokuba nendima ebalulekileyo kule mpazamo. Abasetyhini abakhawula umntwana kwiminyaka engama-35 nangaphezulu banethuba elikhulu lokuba nomntwana one-Down Syndrome. Oku kungenxa yokuba amaqanda abasetyhini abadala athanda ukuba nezitenxo ezininzi zechromosomal kunalawo abasetyhini abancinci. Nangona kunjalo, kufuneka kuthathelwe ingqalelo ukuba ubaba okwinqanaba eliphezulu unokunyusa izehlo zeempazamo ze-meiotic kwisidoda.
Inkqubela phambili kwezonyango kunye nemfuza ivumela uphando oluninzi. Kwaye nangona i-Down Syndrome ingathinteleki okanye inyangeke, ukufunyanwa kwangoko kunye nokufikelela kukhathalelo olufanelekileyo kunye nemfundo kunokuphucula kakhulu umgangatho wobomi baba bantu. Ukuba ufuna ulwazi oluninzi malunga izicelo zebhayoloji kwezamayeza, tyelela amanye amanqaku anxulumeneyo.
4. Ukuqonda iimpembelelo zexesha elide zeDown Syndrome kuBomi boMntu
El I-Down syndrome Iza nefuthe lexesha elide kubomi babo bangabanini bayo, kodwa kubalulekile ukuqonda ukuba umntu ngamnye wahlukile kwaye ezi ziphumo zinokwahluka kakhulu ukusuka komnye umntu ukuya komnye. Eminye yemingeni exhaphakileyo ibandakanya ukulibaziseka kophuhliso lomzimba nengqondo, iingxaki zempilo ezifana nesifo sentliziyo kunye nesifo sokuphefumla, kunye nobunzima kwizakhono zentlalo kunye nokuzinyamekela. Nangona kunjalo, unyango lwakwangoko kunye nendawo exhasayo inokuhamba indlela ende ekuphuculeni umgangatho wobomi kwaba bantu.
Ubomi obudala bomntu one-Down syndrome bunokuzisa imiceli mngeni emitsha, efana nobunzima bokuzilawula nokuzimela. Ngokufuthi, aba bantu baya kuxhomekeka kwiintsapho zabo okanye ezinye iinkonzo yenkxaso kubomi babo babadala. Nangona kukho imingeni, Abantu abadala abaninzi abane-Down syndrome banokuphila ubomi obanelisayo nobunentsingiselo., ukusebenza, ukuthatha inxaxheba kwimisebenzi yentlalo kunye nokuba negalelo kuluntu lwabo ngeendlela ezinentsingiselo.
Kubalulekile ukuba iintsapho kunye nabanonopheli baqonde compromiso a largo plazo Kubandakanya ntoni ukukhathalela? yomntu kunye ne-Down syndrome. Iimpembelelo zoku zinokuchaphazela impilo-ntle yeemvakalelo neyemali yosapho. Nangona kunjalo, iingcebiso ezifanelekileyo kunye nenkxaso, nokuba yingcali okanye ngokusebenzisa uluntu kunye namaqela enkxaso, kunokuba luncedo kakhulu. Usenokuba nomdla kweli nqaku unyango kunye nenkxaso Down syndrome.
5. Amaqhinga kunye neengcebiso zokuphucula umgangatho wobomi babantu abane-Down syndrome
Ulawulo kwangethuba nolubanzi lungundoqo ekuphuculeni umgangatho wobomi babantu abane-Down Syndrome. Esi sicwangciso asigxininisi kuphela ekuphuhlisweni komzimba, kodwa nakwingqondo, imvakalelo kunye nophuhliso lwentlalo yomntu. Ukubonelela ngokhathalelo lwangethuba, olunjengonyango lomsebenzi kunye nonyango lomzimba, lunokunceda ekuphuculeni izakhono ezifanelekileyo kunye nezinzulu zemoto, ulungelelwaniso kunye nokusebenza komzimba. Eyona njongo iphambili kukuphucula izakhono zabo kunye nokubonelela ngezixhobo eziyimfuneko ukuze babe nobomi obuzimeleyo okanye obungaxhomekekanga kuluntu. Apha Unokufumana ulwazi oluthe kratya malunga nokubaluleka kokunyamekelwa kwangoko kwi-Down syndrome.
Kwindawo yesibini, ukubandakanywa kwentlalo kunye nokudibanisa Ngomnye umba obalulekileyo wokuphucula umgangatho wobomi babantu abane-Down syndrome. Zidibanise kuluntu ibonelela ngamathuba othungelwano nabanye abantu, dala ubuhlobo kunye nokufumana izakhono zentlalo neemvakalelo. Ngoko ke, kucetyiswa ukuba uthathe inxaxheba kwintlalontle, ezemidlalo kunye nemisebenzi yenkcubeko, kunye neenkqubo zokubandakanywa ezikolweni nakwiindawo zokusebenza.
Ekugqibeleni, kubalulekile ukugxininisa educación y sensibilización njengesicwangciso esibalulekileyo sokuphucula umgangatho wobomi babantu abane-Down syndrome. Ukufundisa uluntu malunga nolu phazamiseko lwemfuza lunokunceda ekuncothuleleni iinkolelo kunye nocalucalulo olunxulumeneyo. Ngaphezu koko, ukukhuthaza intlonipho kunye nokwamkelwa kuya kukhawulezisa ukuhlanganiswa kwentlalo yaba bantu kwaye kuya kuba nefuthe elihle kwintlalontle yabo yeemvakalelo kunye nokuzithemba. Ekugqibeleni, yonke le miba ibalulekile ekuphuculeni umgangatho wobomi babantu abane-Down Syndrome.
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