Monosomy - yintoni na le nto?

Isakhiwo genetic ngababini yabantu chromosome 23 ichazwa, ezahluke ngokumila nobukhulu. Le chromosome inkulu 1. sidlula ubungakanani chromosome 22 4 amaxesha. 23 ipere - a chromosome X kunye Y. Zimisela besini abantu. Xa abafazi 23 iqulethe iperi 2 X zofuzo, isibini uchongwe XX. Ngabantu, 23 iquka iperi zofuzo X kunye Y, ngamanye amazwi, - iperi XY.

Xa usenziwa ndiseyimbumba, iye njengoko okwangoku akukho zimpawu umntu, kodwa 23 ama zofuzo kugqiba besini ikamva sele komntwana isibeleko kamama elizayo. Edlulileyo 22 ngababini zibizwa ngokuba autosomes. Baya ukuqinisekisa uphuhliso onke amalungu angaphakathi kunye nezihlunu umntwana.

Nenzalo njenge monosomy uphawu

inzalo Iimazi kuba sisiphumo ezimbi ezahlukeneyo. Kwimeko zokugxojwa ubume 23 ama zofuzo, ke wabeka phambi kokuzalwa, xa unina enokubakho ngokwakhe waba kwimeko umbungu esibelekweni.

Ukuba iperi amabini ezingekhoyo omnye X chromosome, okanye yonakele, loo ukungaqheleki ekuthiwa monosomy X. ubudlolo - enye iimpawu ezininzi ukutyhilwa monosomy X. izifundo amayeza Modern njani iimpawu kwesi sifo kunye neendlela ukuluphatha.

Yintoni na?

Monosomy - noku kutenxa kokumiselweyo, ogama emva sisazinzulu eyafumana ngayo kunye Turner syndrome. Esi sifo yemfuza kuphela emantombazaneni. Ngokutsho manani zakhe zibonisa malunga 1 kwiimeko 2500.

Okwangoku, uphuhliso amayeza ukuthintela Turner syndrome akunakwenzeka. Amantombazana nesi sifo usenokuphila ubomi obuqhelekileyo, kodwa kufuneka kweliso elibukhali likagqirha, ngenxa yokuba bakwazi ezinobuzaza.

Ezinye iimpawu monosomy

Lwadiza ukuba amantombazana babe syndrome ithuba monosomy ebuntwaneni isenokuba ezi mpawu zilandelayo sifo:

• Ebuntwaneni adumbe izibambo neenyawo.
• Baby emva oqondela kwi ukukhula.
• Inkalakahla kula mantombazana ingaphezulu kwe umntwana avareji, kunye tabs ngezantsi.
• Izigulane amantombazane evame ukuba kwathatha utyebile.
• Kukho Kudla tyaba.
• Iimvalo hang phezu kwamehlo akhe.
• Strabismus.
• Intamo bufinyeziwe.
• Kukho amalungu omzimba noboya obuninzi emzimbeni.
• izandla iyanqanyulwa.

Ukongeza kwezi zifo, amantombazana elivisayo, kungathiwa:

• isifo Heart (nesmykaemost udonga valve).
• Njengengubo lokufikisa.
• Ukuva iingxaki.
• Rhoqo uxinzelelo oluphezulu lwegazi (lwegazi).
• elimandundu ezinxulumene izifo ezindlebeni.
• amehlo Dry.
• Ukophulwa kokuma, kude kube zokufota.

Ngokwemigaqo yophuhliso ngesondo waphawula:

• Disproportionality le esini lwangaphandle.
• amabele ezingaphuhliswanga.
• Ukungabikho noboya obuninzi emzimbeni okubonisa phantsi kwamakhwapha kwaye ngaphezu pubis.
• wesizalo baswele.
• Ukungabikho okanye yokungenzi zamaqanda.
• Amanqanaba Ukuncipha iihomoni ababhinqileyo.
• Sexesheni passivity, kude yokunqongophala sexesheni.

Ubunzima afakwa iimpawu uxilongo kukuba iimpawu omnye waqaphela kwezinye izifo. Ukuba unayo intwazana na ubudala, kuyimfuneko kwathi sihlolwe kwi ekliniki.

Enye yeempawu monosomy zofuzo ngesondo ulusu excess emacaleni entanyeni, nto leyo eyenza esibayeni longitudinal.

Izinto ezibangela monosomy

Kweli nqanaba uphuhliso inzululwazi ukusungula unobangela monosomy iinkcukacha olungekazalwa. Yintoni eyaziwa ngokuba qinisekisa - akukho ngezifo ezinxulumene yofuzo. Eyona engundoqo Impembelelo zokuqhambuka sifo iseli ukuphazamiseka genetic sex uyise ungakanani ehlabathini kwesisu. Esi sisizathu monosomy engundoqo.

Ukuba yemfuza kayise, baye banikwa kuguquka ezenzeka inguqu isakhiwo X chromosome, umntwana - intombazana, kakhulu, ungenza iyonakala 23 izibini zofuzo. Kodwa ke, kufanele kuphawulwe ukuba intsapho enjalo ukuba ningayekeleli ukuba abantwana angafanele ngayo. Uyise wokunyhashwa X-chromosome kusenokwenzeka nokuzalwa kosana esempilweni ngayo.

Kutheni monosomy we X chromosome? Izizathu kwesi sifo zezifundo, kodwa kweli nqanaba yeza bathi oku kulandelayo:

• Ukwenzeka monosomy kwi kwimveku sinxulumana kwezimo lwangaphandle.
• Le ngezifo ayikho ilifa. Kungenjalo, kwakuba onke amantombazana entsatsheni uyise zofuzo-owenzakeleyo.
• Eyona mhlawumbi unobangela Turner syndrome - ifuthe izinto eziyingozi kwi-cell uyise ngokwesondo kungekudala ngaphambi kokuba akheke.
• Ngexesha kwisahlulo elilodwa kwaye iguqulwe ibe ndiseyimbumba zingenzeka kakuhle, obe ubaqhiphukisa kaMoses-uhlobo monosomy.

lokufunyaniswa kwesifo

Ukuze monosomy le chromosome kwi kwimveku kuye kwaba njalo, kwanangaphambi kokuzalwa abasemngciphekweni abasetyhini ukuba wenze uvavanyo ekhethekileyo yemfuza. Olu phando - Uhlalutyo genetic siswini - kuquka uviwo ultrasound, a biopsy izihlunu kunye lolusu iziqhamo, uvavanyo lwegazi elebhu.

ukuhlolwa okukhulu kangaka ugqirha imisela, xa kufikwa koko, shiya iziqhamo okanye ukuphelisa ukukhulelwa. Ngoko ke, ukuba ziqhutywa kwiinyanga zokuqala ezi-3 zokukhulelwa. Oko kukuthi, ukuba usapho na ukusombulula umba, okanye ukuba umntwana, uphando ayikho elimisiweyo.

Ugqirha usenokuncomela uvavanyo ngezemvelo monosomy of chromosome 21 mabungafakwa ukuba:

• Umama okhulelweyo kwama-35 eminyaka.
• Intsapho a ngezifo okhulelweyo bayiqaphela njengelifa.
• Entsatsheni, kuye kwabakho amatyala ntlanzi (a-ethe) X chromosome apho.
• Ukusola hemoglobinopathies.
• Ukusola Down syndrome kwi umntwana kunye nezinye ezinxulumene ukuya yofuzo, iimeko ezingalunganga.

Xa uxilongo sithabathela ingqalelo izinto ezinjalo ukuba uphando kufuneka benzakalise impilo kamama okanye umntwana, kungenzeka kubangele ukulahleka olungekazalwa. Oogqirha ukuqhuba uxilongo kufuneka ukuba abaqeqeshwe kakhulu ekuveliseni uphando uxilongo.

Phambi komfazi uvavanyo yemfuza kufuneka bangenele uviwo yovavanyo ngu ugqirha kwikliniki yakhe, ugqirha isigqibo enoba ekhulelwe emngciphekweni uyasebenza, okt. E., Nokuba kukho amathuba okuba usana olungekazalwa iya kuvela monosomy syndrome. Kuphela emva kokuba impendulo omhle lo mbuzo sibhekiswe uvavanyo yemfuza abakhulelweyo.

Xa isigulo siswini, kukho ezinye iindlela - a okuhlatywa ze imifinya ngenjongo yokuthatha kuhlalutyo fluid, iisampulu igazi intambo yosana, Fetoscopy. Le yokugqibela yi ukuqaliswa kwe-probe kunye therethrough yoviwo Palsy. Fetoscopy wasebenzisa kunqabile kakhulu, kuba kwinqanaba langoku zophuhliso bezixhobo zonyango, le nkqubo indawo ultrasound ngempumelelo.

Ukuba umbungu khange ibonakele ngexesha monosomy we X chromosome, kwaye kukho urhano kwesifo kwiminyaka embalwa emva kokuzalwa, uphando lwenziwa amantombazana ndlela zilandelayo:

• Luchazwa kukungabikho chromatin ngesondo.
• Ikhethwa yi karyotype.
• Bechola udokotela umntwana.
• Yenza US of eveze zangaphakathi.
• Xa ndandineminyaka eli-test iminyaka 9-10 igazi emzimbeni.
• Oqeshwe yi-X-ray izandla ukuhlangabezana nophuhliso kobudala ithambo.

Ngokutsho uphando yikomishoni olulodwa senziwe isigqibo nokukhubazeka.

iintlobo monosomy

Monosomy - sisifo kuba kweentlobo ezahlukeneyo. Xa ukuzalwa intombazana kwi chromosome isibini XX yesibini kungangabikho ngokupheleleyo. Olu hlobo labekwa njengoko genetics 45H0. La mantombazana amaqanda abekho ngokupheleleyo okanye ongaphuhliswanga kunye esibelekweni. Zabo ukufikisa uthatha indawo. Akukho chromosome, nto leyo ebonisa uphuhliso neempawu zesini zasesekondari, esini ngokwabo kunye iihomoni ezinxulumene.

Ukuba chromosome yesibini kwisibini XX langoku, uhlobo yemfuza 46 XY. Kulo mzekelo, intombazana iya kuba wesibeleko kunye amaqanda, kodwa ke kuya kufuneka isakhiwo oludala, t. E. Akuyi kuba nako ovulate kwaye ukukhawula umntwana.

Eziyingozi kakhulu ityala xa omnye chromosome ilahlekile ngababini 1 - 22. Ezi ibizwa ngokuba autosomes. Kuphuhliso okuqhelekileyo elilodwa kwiseli nganye 2 zithunyelwa zofuzo ezahlukeneyo nezibonda zayo. Ukuba umntu ongenaso autosomes, kwipali iiseli zithunyelwa kuphela chromosome yangoku. Xa ekudibaneni kwawo baphilileyo, lo elilodwa ifunyenwe ezinenani okungaqhelekanga zofuzo. Oku kukhokelela ekufeni ezingekazalwa kunye kwezisu ezizenzekelayo. Ukuba inani zofuzo mkhulu nge-1 ngaphezu kwinguqulelo esemgangathweni, i isisu yenzeke, kodwa ukuba sizalelwe umntwana, abakwazi ukuba aphile ixesha elide.

monosomy akakhethi

monosomy kwenxenye chromosome breakage xa kuyilwa, apho iperi ekhohlo enye ingongoma chromosome yesibini. Unobangela sifo na ngokutsha noshowo iiseli umzali chromosomal ngesondo kwixesha nje kokuba akheke. Imiphumo sifo ixhomekeke kuhlobo chromosome owayefumene intshabalalo buso.

Syndrome "kati ukukhala"

Ukutshatyalaliswa yinxalenye isibini chromosome 5 kudala syndrome of "lokukhala ikati yakhe." Kwingqula umntwana egulayo iingqameko, intlala ethambileyo, nto leyo ikhala ufana ikati meowing.

Ngenxa hlobo linophawu kwezihlunu flaccidity baby, ubuso Crescent-ezimilise, ukukhubazeka engqondweni kunye lag emzimbeni xa kuthelekiswa kunye noontanga babo. I waphawula umntwana hypoplasia ukhakhayi, isikhundla phantsi iingxaki iindlebe, strabismus amehlo. Ngokuqhelekileyo, aba bantwana sigula zizigulo entliziyweni. Ezi zigulane siphila ixesha - elide ukuya kwiminyaka-10. leengxaki injalo kwiimeko-1 ka-45,000.

Wolf-Hirschhorn syndrome

Uqhekeko of Ngababini, omnye chromosome 4 (Wolf-Hirschhorn syndrome) yenzeka ngo-1 100 000. Abantwana abane monosomy leeperi chromosome 4, ezifunyanwa koomama abatsha nootata. ubunzima Ukuzalwa kuba ngaphantsi kakhulu kunesiqhelo - 2 kg. Kwiintsana, kukho ukulibaziseka uphuhliso kunye motor lwezakhono ngokwasemzimbeni nangokwasengqondweni nzima ngokucothayo kakhulu. Ziphila lokungaphuhliswa yokakayi.

Xa imbonakalo yabo uqaphele impumlo beaked, ibunzi abadumileyo, iindlebe ephantsi-warhola ilitye, nezibaya longitudinal phambi ngeendlebe. Kananjalo flaccidity kwezihlunu langoku. Baphantse musa modem ezenzeka ngaphandle. abantwana abanjalo ukugula. Ngokwangaphandle, ukuze abe isakhiwo okungaqhelekanga ngamehlo, umlomo encinane ngemilebe netshiki kwi koqoqo, iinyawo egwenxa. Abantwana abagulayo bakholisa sigula zizigulo entliziyweni. isifo sezintso abachaphazelekayo. Uninzi lwabantwana kule intshabalalo chromosomal musa ukuphila ngokuvisisana ngonyaka.

Orbeli syndrome

Uqhekeko of chromosome 13 ebizwa isibini syndrome Orbely. Abantwana abazelwe noku kutenxa kokumiselweyo ezinobunzima elincinane - up to 2.2 kg. Zinelungelo isifo phantse onke amalungu zangaphakathi. Ke luyalambatha ukhakhayi, kuyadumaza ibhulorho - ibunzi nangoko itshintshela empumlweni. Impumlo inophawu ububanzi okwandileyo, isibhakabhaka phezulu, izikhwebu ephantsi kakhulu. Usana waphawula ngezifo of hypoplasia kwenkqubo musculoskeletal. Kusenokubakho kungabikho Umsele ye isikali kunye ezimpundu. Kudla kukho isifo sentliziyo, isifo sezintso, isifo ebuchotsheni. Ezi abantwana badla Oligophrenic uhlaselwe zabo yentuthumbo, kaninzi baye balahlekelwa abazi lutho. Iintsana musani ukuphila ngokuvisisana kunyaka 1.

Monosomy - oku sisifo eyingozi kakhulu, kwaye abantwana bazalwa monosomy buso ezinqabe kakhulu. Oomama abakhulelweyo Akunyanzelekanga ukuba balungise kwisiganeko onjalo.

Iingxaki monosomy X

Abasetyhini ne monosomy X ezithandwa zizifo ezahlukahlukeneyo amalungu zangaphakathi kukhangaleka kakhulu kubantu abasempilweni zemfuza. Kufuneka kubonwe ngugqirha kwaye enziwe uxilongo lwezonyango ngamaxesha athile.

ingxaki rhoqo ukusilela kwezintso. Izigulane nabafazi badla ezehlelwa zizifo ezosulelayo ngamalungu enzala, ibekwe ngendlela engafanelekanga, azibhalwanga kuphuhliswa ngokupheleleyo nezintso.

Monosomy Ukuba umntu indawo ukuba, ngamanye amaxesha unale esinobubovu lengqula, oveza amanqanaba zaneleyo zamadlala ezifunwa ngumzimba. Le ndlala lengqula ke bazitshisekisayo, ngenxa yokuba oko kwenzeke ezi nkathazo. Unyango angaba kuphela ngokuthatha amayeza, ukuxhasa ulungelelwano oluqhelekileyo hormone. Kufuneka atyumbe gqirha. Self-iyeza ayivumelekanga.

Ukubandezeleka evela Turner syndrome kusenokwenzeka ukuba ukuphuhlisa isifo celiac. Le leengxaki sigxininiswa ukuvela uxabana ukuya gluten protein. Izigulane makangayidli iimveliso ezenziwe ingqolowa nerhasi.

Ezinobuzaza ukunika nayiphi monosomy. Izifo ezihambisana monosomy zinokuba nomahluko, umz, isifo sentliziyo. Abasetyhini ne ngezifo bunokulolongeka eyimfuneko cardiologist, ngubani umkhondo ubume aorta zabo iyaluthintela uphuhliso lwegazi.

Ekubeni izigulane Turner syndrome ezithandwa ukutyeba, akaba nazo seswekile.

isisu ephosiweyo

izifo Genetic, kuquka monosomy umbungu igqalwa oonobangela isisu ephosiweyo. Oku kokufa Umbungu ngaphakathi esibelekweni sikanina. Monosomy xa kusenzeka kwiiveki ezili-12 zokukhulelwa. Maxa wambi ubomi olungekazalwa ngakumbi - ukuya kwiiveki 20. Le ngozi xa kungekho ngeempawu ezalatha into enye chromosome isibini 1-22, ebizwa ngokuba yi-trisomy. Monosomy yi ithuba uphazamiseko ngabom yokukhulelwa.

Akubonakali ebhadlileyo Ukuzama ukuba ugcine olungekazalwa abanala makhwiniba kakhulu zophuhliso. isisu othethwayo sigcina kwesisu. ngobungozi ngabafazi abangaphezu kweminyaka engama-35 - engama-40 ubudala, yaye abo oku kuye kwenzeka ngaphambili.

Oosonzululwazi wabuye wabona unciphiso kweminyaka yokuphila amabhinqa monosomy, susceptibility ukuya yegazi, nangezilonda.

unyango monosomy

Monosomy - a ngezifo, nto leyo efanele unyango, kodwa oogqirha ukumelana ngempumelelo kunye neziphumo zawo. Kakuhle eli unyango kukuba inazo kwamadlala umzimba ulawulo amaqanda kufuneka ummiselo ngumntu. Pathology amalungu zangaphakathi baphathwa ngokwezonyango okanye intsumpa. unyango iquka:

• Mzimba ukukhula girls traps ngoko nangoko emva kokuxilongwa.
• Xa eneminyaka lokufikisa, abantwana abasempilweni ukubandezeleka monosomy, amisele iihomoni.
• Abo banqwenela ukuthwala umntwana kwabasetyhini kunye ngezifo kunceda nemithi - ukusungulwa iqanda donor ivundiswe waphawula ngakumbi ukukhulelwa.
• Unyango ezimbi ngamalungu angaphakathi kunye namachiza mihla kunye nonyango.
• uncedo Psychological kwabasetyhini ukuze avumelane neemeko zentlalo, kuthathelwa ingqalelo izinto awohluke ngenxa zomzimba.

Ingongoma ubalulekileyo unyango na ekuqaleni kwayo okufika - ngoko nangoko emva kokuxilongwa. Ingongoma yesibini - uhlobo akhawunti monosomy. Ukuba uhlobo 45H0, lo mfazi akayi kuba nako ukuba umntwana wabo nayiphi na indlela. uncedo Psychological kufanele alungiselele ukuba ingcamango yokuqulunqa umntwana - wayeyinkedama.

umbono Imbasa monosomy X - 46XY kunye nophuhliso zezonyango namhlanje kwenza kube lula ukuba awuthwale umntwana wakhe. Kodwa yena unako azalwe abagulayo. Ukwamkelwa ikhethwa kule lwalo.