Monosomy - Iyini?

Isakhiwo genetic womuntu chromosome ngazimbili 23 kuchazwa, okuyinto zingafani umumo kanye nosayizi. I-chromosome ngobukhulu 1. kosayizi chromosome 22 cishe 4 izikhathi. 23 pair - a X chromosome futhi Y. Yizo ezinquma wobulili abantu. Ngo abesifazane 23 iqukethe pair of 2 X chromosome, umbhangqwana lumiswa XX. In amadoda, 23 siqukethe pair wama-chromosomes X Y, ngamanye amazwi, - pair of XY.

Lapho kwakhiwa i-embryo ibizwa, it has okwamanje azikho izimpawu umuntu, kodwa 23 ngazimbili wama-chromosomes inquma ubulili ngekusasa isivele ingane esibelethweni kukamama esizayo. Langaphambilini 22 ngazimbili abizwa ngokuthi autosomes. Bayakuba Ukuqinisekisa ukuthuthukiswa zonke izitho zangaphakathi nezicubu of a baby.

Okungavundile njengoba monosomy uphawu

inzalo Female kungaba umphumela pathologies ezehlukene. Endabeni ka kokunikezwa kwe-isakhiwo 23 ngazimbili wama-chromosomes, kwayo ngaphambi kokuzalwa, lapho umama engaba yena kwaba esimweni umbungu esibelethweni.

Uma pair of amabili abakaki oyedwa X chromosome, noma ezilimele, okungavamile ezifana ngokuthi monosomy X. Okungavundile - wezinye izimpawu ukwambulwa kakhulu izifundo imithi yesimanje monosomy X. kanjani izimpawu zalesi sifo nezindlela yokuphatha kulo.

Kuyini lokhu?

Monosomy - lokhu ukuphambuka, yaqanjwa owaqamba wathola ke nge Turner syndrome. Lesi sifo izakhi zofuzo kuphela amantombazane. Ngokwezibalo wakhe ubonise mayelana 1 ezimweni 2500.

Okwamanje, ukuthuthukiswa umuthi wokuvimbela Turner syndrome akunakwenzeka. Girls nalesi sifo angaphila impilo evamile, kodwa badinga kweso lwezokwelapha, ngoba bangakwazi ukuhlakulela ukuxakeka.

izimpawu Okunye monosomy

Lwembula ukuthi amantombazane abe syndrome ithuba monosomy ebuntwaneni kungenzeka zimpawu ezilandelayo lesi sifo:

• Isakhasa zigcwala izibambo nezinyawo.
• Baby ngemuva osinga ku ukukhula.
• Ulimi kulezi amantombazane ingaphezu kwe-ingane Ngokwesilinganiso, namathebhu ngezansi.
• Iziguli amantombazane evame ukulwa ukuhlelwa ukhuluphele.
• Kukhona ngokuvamile flat.
• Izivalo zamehlo hang ongaphakeme phezu kwamehlo akhe.
• Strabismus.
• Intamo mfushane.
• Kukhona zonke iziboya emzimbeni zomzimba.
• izandla mfushane.

Ngaphezu lezi zifo, amantombazane asemancane, bungabonakala:

• Isifo senhliziyo (nesmykaemost valve udonga).
• Okwehlisa ukuqala ukuthomba.
• Ukuzwa izinkinga.
• Njalo ukunyuka komfutho wegazi (hypertension).
• izifo eziphikelelayo elihlobene ne izifo ezindlebeni.
• amehlo omile.
• Ukwephula ukuma, kuze ukugobeka komhlandla.

Mayelana nokuthuthuka ngokobulili waphawula:

• Disproportionality we zangasese zangaphandle.
• Amabele ezibalulwa kanjena ngokufanele.
• Ukuswelakala kokusebenza ngokuhlanganyela zonke iziboya emzimbeni ngaphansi emakhwapheni futhi ngaphezu pubis.
• lesizalo nokungathuthuki.
• Ukungabikho noma yokungasebenzi ezikhiqiza amaqanda.
• yehlise amazinga ama-hormone zesifazane.
• Kokuya esikhathini passivity, kuze yokuntuleka esikhathini.

Ubunzima izilungiselelo izimpawu uphethwe wukuthi kungenzeka izimpawu ezifanayo ebonwe nezinye izifo. Uma unayo i-intombazane wanoma yimuphi yobudala, kubalulekile ukuba baphumelele ekuhlolweni emtholampilo.

Esinye sezici isici monosomy wama-chromosomes socansi isikhumba esilengayo emaceleni entanyeni, esiyingxenye esibayeni longitudinal.

Izimbangela monosomy

Kulesi sigaba ukuthuthukiswa isayensi asikwazanga kutholakale imbangela umbungu monosomy ngokuningiliziwe. Yini eyaziwayo ngokuqinisekile - akukho zokugula ezihambisana ne ufuzo. Ithonya eliyinhloko ku okuvela isifo kuseli-fetus izifo ezibangelwa ufuzo ubulili kayise emhlabeni nje ebamba isisu. Lona main isizathu monosomy.

Uma izakhi zofuzo uyise eziye zabhekana kuguquka elafika tingucuko isakhiwo se-X chromosome, wengane - intombazane, futhi, kungenziwa kabana 23 ngazimbili lezakhi zofuzo. Kodwa kufanele kuphawulwe ukuthi emndenini enjalo ithawula nabantwana akufanele ke. Ubaba ne kokunikezwa kwe-X-chromosome kungenzeka kakhulu ukukhulelwa nokuzalwa ukuba nomntwana ophile kahle ngayo.

Kungani monosomy we-X chromosome? Izimbangela lesi sifo kufundvwe, kodwa kulesi sigaba of umuthi basho lokhu okulandelayo:

• Izehlo monosomy ku-fetus ongakaphathelani kwezimo ezingezinhle zangaphandle.
• Lokhu zokugula akuyona ngofuzo. Ngale kwalokho, uthola zonke amantombazane emndenini uyise yezakhi zofuzo abalimala.
• Imbangela Cishe iningi Turner syndrome - umthelela izici eziyingozi ku amaseli ubulili kayise nje kokuba nje ebamba isisu.
• Phakathi Ukuhlukaniswa zygote futhi iguqulwe ibe umbungu kungenzeka eziyimbangela yezinkinga ezizuzwa, okuyinto kubangele KaMose-uhlobo monosomy.

sitholakele isifo

Ukuze monosomy we-chromosome ku-fetus iye wawususa esesesiswini at-engozini abesifazane ukwenza ukuhlolwa okukhethekile zofuzo. Lokhu inhlolovo - kokubeletha ukuhlaziywa zofuzo - kuhlanganisa ultrasound luhlolo, a biopsy imisipha futhi isikhumba isithelo salowo muthi, ukuhlolwa igazi laboratory.

Ukuzihlola okunjalo sina udokotela ekunika, uma kuziwa ukuthi, shiya izithelo noma anqamule okukhulelwa. Ngakho-ke, basuke iphathwe 3 Ezinyangeni zokuqala zokukhulelwa. Okusho ukuthi, uma umndeni akusho ukuxazulula inkinga, noma kungase kungabi ingane, inhlolovo akuyona esimisiwe.

Udokotela angase atuse ukuba ukuhlolwa kwezakhi monosomy ne-chromosome 21 ibekelwe uma:

• umama okhulelwe engaphezu kwengu-35.
• Umndeni abakhulelwe waphawula zokugula sitholwa njengefa.
• Emkhayeni, lapho kuye kwaba namacala ziyaqothuka (a ethambile) X chromosome.
• Izinsolo hemoglobinopathies.
• Izinsolo -Down syndrome ku ingane nabanye okuhlobene ufuzo, izimo ezingezinhle.

Lapho uphethwe uyakucabangela zinto inhlolovo akufanele balimaze impilo kunina noma kumntwana, kungenzeka kuholele ekulahlekelweni umbungu. Odokotela kokuqhuba ukuhlola kudingeka babe kakhulu afanelekayo ukwenziwa ucwaningo kwesifo.

Ngaphambi zofuzo ukuhlolwa owesifazane kufanele ahlolwe Ukuhlolwa nge udokotela wezifo zabesifazane emtholampilo wakhe, udokotela wanquma ukuthi ekhulelwe isengozini osebenza, isb. E., Kungakhathaliseki kukhona amathuba okuba i-fetus kuzovela monosomy syndrome. Kwaze kwaba yilapho sebeshiye impendulo omuhle kulo mbuzo sibhekiswe ukuhlolwa abakhulelwe zofuzo.

Ngo ukuxilongwa okufanele kwangaphambi kokubeletha, kunezinye izindlela - a wokubhoboza of ulwelwesi ngenhloso ngokuthwala ukuhlaziywa-amniotic fluid, amasampula egazi evela umzanyana, Fetoscopy. Lesi sakamuva ukwethulwa probe futhi fetus luhlolo therethrough. Fetoscopy esetshenziswa kakhulu kuyaqabukela, ngoba ezingeni samanje yentuthuko bemishini yezokwelapha, le nqubo ngempumelelo esikhundleni nge-ultrasound.

Uma umbungu engakaze sitholakale ngesikhathi monosomy we-X chromosome, futhi kwakukhona izinsolo uphethwe emva kokuzalwa eminyakeni embalwa, inhlolovo uqhutshwa amantombazane ngezindlela ezilandelayo:

• Defined ukungabi ubulili chromatin.
• Kunqunywa karyotype.
• Bamba wokubonisana ingane wezifo zabesifazane.
• Yenza US umthondo yangaphakathi.
• Lapho ngineminyaka engu-test iminyaka 9-10 igazi-hormone.
• Aqokwe X-ray yezandla ukubhekana nezidingo zentuthuko ithambo yobudala kuyinsakavukela.

Ngokwenhlolo-vo eyenziwa yi-umsebenzi okhethekile kungenziwa isinqumo ukukhubazeka.

izinhlobo monosomy

Monosomy - isifo kungaba ezahlukene. kungenzeka Lapho kuzalwa intombazanyana lesibili chromosome pair XX lingekho ngokuphelele. Lolu hlobo yakhethwa njengoba zofuzo 45H0. La mantombazane kukhona amaqanda lingekho ngokuphelele noma ezibalulwa kanjena ngokufanele futhi kwesibeletho. Yabo ukuthomba akuthathi indawo. Ayikho-chromosome, ebheka ukuthuthukiswa izici ngokobulili yesibili, izitho zobulili ngokwabo futhi hormone ahlobene.

Uma le-chromosome yesibili ku pair XX samanje, uhlobo zofuzo 46 XY. Kulokhu, intombazane ngeke abe kwesibeletho futhi ezikhiqiza amaqanda, kodwa bayoba isakhiwo esingesihle, t. E. Ngeke bakwazi ovulate futhi esizicabangelayo ingane.

Okuningi esiyingozi icala lapho omunye chromosome sishoda ngababili 1 - 22. Lezi zibizwa ngokuthi autosomes. Ekuthuthukisweni evamile zygote engqamuzaneni ngalinye 2 ithunyelwa Ama-chromosomes e ezahlukene bafake izinti zalo. Uma omunye awunazo autosomes, okwamanje la mandla kwamaseli uthunyelwa kuphela-chromosome zamanje. Ngezinye confluence yayo nge enempilo, zygote etholwe ngenombolo okungavamile chromosome. Lokhu kuholela ekufeni fetus isisu nokuguqulwa. Uma inani lezakhi zofuzo mkhulu by 1 kuka version standard, isisu angeke kwenzeke, kodwa uma ingane izalwe, asikwazanga ukuhlala isikhathi eside.

monosomy esinqunyiwe

monosomy kwengxenye chromosome zokugwema ukuphuka lapho kwakhiwa, lapho i-pair of kwesokunxele bese omunye iphuzu le-chromosome yesibili. Imbangela isifo iyona rearrangement isakhi amaseli chromosomal ocansini nomzali esikhathini sangaphambi nje kokubulawa nje ebamba isisu. Imiphumela sifo zincike onjani chromosome kwavele ezicekeleké.

Syndrome "ikati ukukhala"

Ukubhujiswa ingxenye chromosome 5 pair kudala lesi sifo of "ukukhala cat sika." Amalaka ingane egulayo ayisesemikhulu, uqwanga elithambile, okuholela ingane ikhala sifana cat meowing.

Ukuze lolu hlobo nazo libhekene imisipha flaccidity ingane, ubuso inhlendla emise, retardation engqondo futhi lag ngokomzimba ngokuziqhathanisa nontanga yabo. Ingane waphawula skull hypoplasia, isikhundla esiphansi ezindlebeni, strabismus futhi iso izinkinga. Ngokuvamile, lezi zingane uhlushwa izifo zenhliziyo. Lezi ziguli siphila isikhathi eside - eside kuze kube iminyaka engu-10. zokugula okunjalo kubonakala 1 aphume 45,000 amacala.

Wolf-Hirschhorn syndrome

Ukudabuka elilodwa chromosome 4 ngazimbili (Wolf-Hirschhorn syndrome) kwenzeka ku 1 100 000. Izingane monosomy chromosome 4 ngazimbili, ngokuvamile etholwe omama abasebasha nobaba. Izingane ezizalwa zinesisindo incane kakhulu kunokuvamile - mayelana 2 kg. Ngo izinsana, kukhona ukubambezeleka ukuthuthukiswa kanye motor amakhono ngokomzimba nangokwengqondo kube nzima kancane kakhulu. They jeza nokungathuthuki Yekhanda.

Ngu ukubukeka kwabo ungaphawula ekhaleni beaked, ebunzini ovelele, izindlebe ephansi ayejikijela, emphethweni longitudinal phambi ezindlebeni. Futhi isipho imisipha flaccidity. They cishe ungathathi ngamawala ezintweni ezenzeka ngaphandle. izingane ezinjalo nokuquleka. Ngaphandle, abaprofethi bamanga bangase babe isakhiwo okungavamile amehlo, umlomo omncane ngezindebe alengayo lemahlanganweni, izinyawo oluyisigwegwe. Izingane ezigulayo ngokuvamile uhlushwa izifo zenhliziyo. Athintekayo nesifo sezinso. Iningi izingane lokhu kubhujiswa chromosomal musa ukuphila ngokuvumelana ngonyaka.

Orbeli syndrome

Ukudabuka chromosome 13 ngokuthi lesi sifo pair Orbely. Izingane ezizalwa nale ukuphambuka nge isisindo encane - kuze kufinyelele 2.2 kg. Banezinhliziyo isifo cishe yonke izitho zangaphakathi. Bona ampofu Yekhanda, ulahlekile kwebhuloho - ebunzini ngokushesha sekuqalile ukuba ekhaleni. Ikhala ine ububanzi kakhudlwana, isibhakabhaka kuphezulu, ezindlebeni liphansi kakhulu. Usana waphawula zokugula we hypoplasia of the system zemisipha. Kungase kungabi namthetho Umsele we ingemuva kanye ingquza. Ngokuvamile kukhona isifo senhliziyo, isifo sezinso, isifo ingqondo. Lezi izingane zivama Oligophrenic wokuhlushwa kwabo ukuquleka, bavame ulahlekelwe ukwazi. Izinsana akudingeki siphile ngokuvumelana unyaka 1.

Monosomy - lesi sifo kuyingozi kakhulu, kanti izingane zizalwa monosomy ngokwengxenye ezingavamile kakhulu. Omama abakhulelwe akudingeki ukuba ngizivumelanise nawo yize umcimbi esinjalo esidabukisayo.

Izinkinga monosomy X

Abesifazane kanye monosomy X othambekele izifo ezihlukahlukene izibilini kunamathuba amaningi okuthi kunabantu enempilo zofuzo. Kufanele esabonwa udokotela futhi ibhekane nokuhlolwa odokotela gqwa.

inkinga njalo ukwehluleka kwezinso. Iziguli abesifazane ngokuvamile zenzeka izifo ezithathelwanayo kwezitho urogenital, engafanele elise, kungukuthi athuthukile ngokugcwele nezinso.

Monosomy Uma umuntu unendawo khona, ngezinye izikhathi uhlushwa indlala yegilo, oveza amazinga enganele hormone adingwa umzimba. Indlala yegilo is abavusa, ngenxa yalokho kwenzeke futhi loko. Ukwelashwa kungase kube kuphela kokudla imithi, ukusekela ibhalansi evamile hormone. Kufanele ukhethe udokotela. Ukuzelapha akuvunyelwe.

Abaphethwe Turner syndrome bayoba nobuhlobo yesifo celiac. Lokhu zokugula sivezwe kula ukuvela komzimba kuya gluten amaprotheni. Iziguli akakwazi ukudla imikhiqizo eyenziwe kusukela likakolweni nebhali.

Izinkinga anikeze noma iluphi monosomy. Izifo ezihambisana monosomy zingase zihluke, isib, isifo senhliziyo. Abesifazane kanye zokugula observation edingekayo wenhliziyo, ngubani ukulandelela isimo aorta yabo futhi uvimbele ukuthuthukiswa nomfutho wegazi ophezulu.

Njengoba iziguli ezine-Turner syndrome zithambekele ukukhuluphala, babekwazi nazo sikashukela.

isisu aphuthelwe

izifo ezihlukahlukene zofuzo, kuhlanganise monosomy umbungu ubhekwa izimbangela isisu aphuthelwe. Lokhu kungukufa umbungu ngaphakathi esibelethweni sikamama ngokujovwa. Monosomy lapho kwenzeka ukuba kwamasonto angu-12 okukhulelwa. Ngezinye izikhathi impilo umbungu ngaphezulu - amasonto 20. Lokhu ubungozi ngokungabi bikho fetus eyodwa chromosome pair 1-22, okubizwa ngokuthi trisomy. Monosomy ongokhetheke aphazamise ngamabomu ukukhulelwa.

Ukuzama ugcine umntwana nge kwezinso ezinzima zentuthuko akubonakali abaphendula ngokunengqondo. isisu Uphuthelwe izophela yisisu. ingozi ezinjalo abesifazane abangaphezu kweminyaka engu-35 - 40 ubudala, futhi labo kwenzeke okunje mandulo.

Ososayensi yaphawula ukuncipha kwesikhathi sokuphila besifazane monosomy, ezifweni ukuba isifo sokuqina kwemithambo yegazi, izimila.

ukwelashwa monosomy

Monosomy - a zokugula, engesiyo amenable ekwelashweni, kodwa odokotela babhekane ngokuphumelelayo nemiphumela yaso. Ingqikithi yalo ukwelashwa wukuthi elingenalo hormone isiqondiso amaqanda umzimba udinga isiqondiso yokufakelwa. Pathology kwezitho zangaphakathi ukwelashwa noma surgically. ukwelashwa Comprehensive kuhlanganisa:

• Zinsiza i-hormone amantombazane ukukhula ngokushesha ngemva uphethwe.
• Ngu eminyakeni yobudala zokuthomba, banezingane eziphile kahle ukuhlupheka monosomy, linqume hormone.
• Labo abafisa azalele abesifazane nge zokugula kusiza nemithi yenzalo - ukwethulwa avundiswa Iqanda onenkinga observation okunye ukukhulelwa.
• Ukwelashwa nokuvikelwa pathologies yezitho zangaphakathi nge ngemithi yanamuhla kanye lokwelatshwa.
• usizo kwenqondo kwabesifazane ukuze avumelane nendawo ezikuyo kwezenhlalo, ikhumbula izici of izitho zomzimba.

Iphuzu elibalulekile kakhulu isikhathi sokwelashwa esifike ngesikhathi kwayo - ngokushesha emva ukuxilongwa. Eyesibili iphuzu - uhlobo lwe-akhawunti monosomy. Uma uhlobo 45H0, owesifazane ngeke ukwazi ukuba ingane yabo ngakulahla nganoma iyiphi indlela. usizo kwenqondo kufanele ukulungiselela wakhe umbono ukwamukela ingane - uyintandane.

buka KaMose of monosomy X - 46XY nge ukuthuthukiswa wokuphila emkhakheni wamuva wezokwelapha kwenza kube nokwenzeka ukuba athwale ingane yakhe. Kepha angazalwa ogulayo. Ukwamukelwa luncanyelwa kule samuntu.