Monosomy - chii ichi?

Masero ari chromosome dzevanhu maviri 23 kunotsanangurwa, iyo yakasiyana chimiro uye kukura. Kudeuka chromosome 1. akapfuudza kukura chromosome 22 iri kusvika 4 nguva. 23 peya - munhu chromosome X uye Y. Ivo kuona zvepabonde vanhu. In vakadzi 23 ine peya 2 X okutodza, vaviri akasarudzwa XX. Varume, 23 rine peya okutodza X uye Y, i.e., - peya imwe xy.

Kana embryo aumbwa, ane sezvo asi hapana zviratidzo munhu, asi 23 majoko okutodza anosarudza zvepabonde ramangwana kare mwana ari dumbu raamai nezveramangwana. Previous 22 maviri vanonzi autosomes. Vanofanira nechokwadi kukura zvose zvomukati uye nyama kwemwana.

Kushaya mbereko sechiratidzo monosomy

Female kusabereka anogona kuva mugumisiro pathologies siyana. Kana kutyora maumbirwo 23 majoko okutodza, zviri vakaisa asati aberekwa, kana mai zvinogona pachake aiva mumamiriro mudumbu mudumbu.

Kana peya wamakumi kunyorwa X chromosome, kana wakaremara, abnormality kwakadaro inonzi monosomy X. kushaya mbereko - chimwe chezvinhu rokuratidzwa zviratidzo monosomy X. Modern mushonga zvidzidzo sei zviratidzo chirwere ichi uye nzira kurapa nayo.

Chii?

Monosomy - kutsauka ichi, mazita musayendisiti akawana nayo pamwe Turner syndrome. chirwere ichi majini chete vasikana. Maererano nenhamba yake inoratidza anenge 1 muna 2500 nyaya.

Panguva iyoyo, kukura mushonga kudzivirira Turner chirwere hazvibviri. Girls nechirwere ichi kunogona hwandaiva upenyu, asi vanoda mishonga cherechedzo, nekuti vanogona kuva matambudziko.

Other zviratidzo monosomy

Zvakaziviswa kuti vasikana vane mukana monosomy chirwere pauduku kungava zvinotevera zviratidzo chirwere:

• In paucheche kuzvimba Pazvibato uye tsoka.
• Baby shure anonyatsotarira pamusoro kukura.
• Mukanwa pavasikana idzi kupfuura avhareji mwana, uye Tabs pazasi.
• Varwere vasikana vanowanzotevedzera kugadzira mashoko okudhinda pasimbi kufuta.
• Pane kazhinji sandara.
• Namafungiro akaremberera pasi pamusoro pameso ake.
• Strabismus.
• The mutsipa pfupi.
• Pane muviri bvudzi dzomuviri.
• Wakafupisa maoko.

Kuwedzera kune zvirwere izvi, vasikana kuyaruka, vangazivikanwa:

• Mwoyo chirwere (nesmykaemost vharafu rusvingo).
• Tava kuderera kutanga kuyaruka.
• Kunzwa matambudziko.
• Kakawanda BP (neBP).
• Persistent chirwere chokuita nezvirwere munzeve.
• Dry maziso.
• Zvaipesana mamiriro kusvikira scoliosis.

Maererano pabonde pakukura vakacherechedza:

• Disproportionality of kwokunze nhengo dzokubereka nadzo.
• Undeveloped mazamu.
• Kushaya bvudzi muviri pasi muhapwa uye pamusoro pubis.
• uterine underdevelopment.
• Kusavapo kana basa iri ovaries.
• Kwakaderedza kwevari hadzi mahormone.
• Yekutevera passivity, kusvikira kushaya kumwedzi.

The nokuomerwa kuisira zviratidzo nechirwere ndechokuti chete zvingaratidza kuonekwa zvimwe zvirwere. Kana vane musikana upi zera, zvinokosha kupfuura rokuongorora pakiriniki.

Mumwe maitiro zvinhu monosomy dzepabonde okutodza mune bongozozo guru ganda kumativi pamutsipa, iyo inowanikwa iri longitudinal mudanga.

Zvinokonzera monosomy

Panguva iyi okukura sayenzi vasingagoni kumisa mhaka mudumbu monosomy zvizere. Chii chinozivikanwa kuti chokwadi - hapana zvokurwara chokuita yedzinza. The huru rokuchinja panowanikwa chirwere ari mudumbu nemagene zvirwere zvepabonde yababa sero kumativi pamuviri. Ichi ndicho chikonzero chikuru monosomy.

Kana majini yababa kunge kuchiita mutation chakaitika Kushandurwa nemamiriro X chromosome, mwana - musikana, zvakare, zvinogona damage 23 yegwara okutodza. Asi zvinofanira kucherechedzwa kuti mumhuri yakadaro mapfumo pasi kuva vana hakusi zviripo. The baba pamwe kutyora X-chromosome kunenge chaizvo pamuviri uye kuberekwa kwemwana utano ndiye.

Nei monosomy pamusoro X chromosome? The zvinokonzera chirwere ichi vari kudzidza, asi panguva iyi mushonga anogona kutaura zvinotevera:

• Chiitiko monosomy ari mudumbu haasi chokuita kwakaomarara kwokunze ezvinhu.
• zvokurwara Izvi hazvina nhaka. Zvikasadaro, zvingava kuwana zvose vasikana vari baba mhuri Gene-kukuvara.
• The ungangotarisa mhaka Turner chirwere - matambudziko inokuvadza zvikonzero pamusoro bonde masero baba vake nguva pfupi asati pamuviri.
• Munguva weboka zygote uye unoponesa kuva embryo zvingaitika malfunctions, izvo anokonzera waMosesi-mhando monosomy.

chirwere chirwere

To monosomy of chromosome ari mudumbu yave warambidzwa, kunyange asati aberekwa pa-njodzi vakadzi kuti majini yokuedzwa chaiyo. Ongororo iyi - pamuviri nemagene ongororo - zvinosanganisira Ultrasound ongororo, mumwe biopsy pakati tsandanyama uye ganda muchero, nomuedzo rabhoritari ropa.

chiremba prescribes kuongororwa chakakomba kwakadaro, kana totaura kuti, siya michero kana kubvisa pamuviri. Saka, vari dzakabatwa muna 3 months akazvitakura rokutanga. Ndiko, kana mhuri asingadi kugadzirisa nyaya, kana varege kuva nomwana, kuongorora harigadzwi.

Chiremba ringavakurudzira majini kukuedzai kuti monosomy pamusoro chromosome 21 akanga kunze kana:

• mai pamuviri makore 35.
• Mhuri ine pamuviri akaona nhaka zvokurwara.
• Mumhuri, kwave kune zviitiko pfava (kunyatsogadzikana) X chromosome.
• Kunyumwira kuti hemoglobinopathies.
• Nokufungirana pamusoro syndrome ari mwana uye mumwe akarondedzera yedzinza, nematambudziko ezvinhu.

Apo chirwere inorangarira zvinhu zvakadai kuti kuongorora haafaniri kukuvadza utano mai kana mwana, zvirege kunogumawo nokurasikirwa azvarwa. Doctors kuitisa Diagnostics vanosungirwa kuti zvikuru kuita pagadzirwe pokuongorora nechirwere.

Pamberi majini yekuedzwa mukadzi aifanira kuva rinovharidzira kuongorora pedyo gayinakorojisiti ari kukiriniki yake, chiremba yakasarudza kana pamuviri pangozi zvinoshanda, kureva. E., Kunyange pane mukana kuti mudumbu wanyatsonzwisisa monosomy syndrome. Chete pashure mhinduro yakanaka yomubvunzo uyu kutaurirwa pamuviri magene yokuedzwa.

In pamuviri nechirwere, kune dzimwe nzira - a ponji pakati membranes nechinangwa kutora pamusoro kuongorora Líquido fluid ropa ivhu kubva achiine rukuvhute tambo, Fetoscopy. Yokupedzisira ndiyo okutanga ari vachiongorora uye fetus kuongorora therethrough. Fetoscopy akashandisa chaizvo kashoma, nekuti panguva ino nenhanho pave zvokurapa mano, nzira iyi zvinobudirira ne Ultrasound.

Kana mudumbu haina dzakaonekwa munguva monosomy yacho X chromosome, uye paiva nokufungirana nechirwere makore mashomanana pashure pokuberekwa, Ongororo iri kuitwa vasikana nzira dzinotevera:

• Kunorondedzerwa tisina bonde chromatin.
• Hunodzorwa karyotype.
• Bata yokubvunza mwana gayinakorojisiti.
• Ita US yomunyika sikarudzi.
• Pazera yokuedzwa makore 9-10 ropa nokuda mahormone.
• Yakatarwa maekisirei maoko kusangana kukura mapfupa zera zvaigara.

Maererano neimwe ongororo achishandisa basa raikosha anogona kuitwa musi urema sarudzo.

mhando monosomy

Monosomy - chirwere chinogona kuva mhando dzakasiyana. Pakaberekwa musikana yechipiri chromosome vaviri XX anogona kusava zvachose. Izvi mhando akanga asarudzirwa sezvo genetics 45H0. Vasikana ava zvachose vasipo kana undeveloped ovaries uye dumbu. Dzavo kuyaruka asingadi kuitika. No chromosome, izvo anosarudza kuvandudzwa yechipiri pabonde zvatariswa, pabonde nhengo pachavo uye vakarondedzera mahormone.

Kana yechipiri chromosome ari vaviri XX chipo, masero mhando 46 xy. Panyaya iyi, musikana vachava dumbu uye ovaries, asi achava wokugaya yakarongeka, t. E. Hakuzovi kukwanisa ovulate uye pamuviri.

Zvikuru ngozi nyaya kana imwe chromosome chinoshayikwa vaviri vaviri 1 - 22. aya anonzi autosomes. Chaiye Kugadzirwa zygote muchitokisi chimwe nechimwe 2 vanotumirwa kune okutodza siyana namatanda ayo. Kana munhu haana autosomes, danda kwamakamuri anotumirwa chete mamiriro chromosome. At confluence dzaro noutano, zygote inotengwa ane zvemamiriro nhamba okutodza. Izvi zvinotungamirira fetus rufu uye vaingoerekana pamuviri. Kana nhamba okutodza mukuru 1 kupfuura Dzvene, pamuviri arege kuitika, asi kana mwana azvarwa, asingakwanisi kurarama kwenguva refu.

kukwana monosomy

Mienzaniso monosomy pakati chromosome breakage kana kuumbwa, kwamakadarika peya kuruboshwe uye imwe pfungwa yechipiri chromosome. The chinokonzera chirwere ndicho STRUCTURAL rearrangement kuti chromosomal zvepabonde mubereki masero munguva nguva pfupi asati pamuviri. Migumisiro chirwere vanovimba worudzii chromosome vakanodzidziswa kuparadzwa kukwana.

Syndrome "katsi kudanidzira"

Kuparadzwa chikamu chromosome 5 peya anosika chirwere kuti "katsi kuti kuchema." Dokeriro mwana anorwara kujekesa, shwashwa munyoro, zvichiguma kuchema mwana chakafanana katsi meowing.

Nokuti ichi mhando vanoitwa kuzivikanwa tsandanyama flaccidity mwana, chiso kirisendi serin'i, retardation mupfungwa uye mumuviri lag kuchienzaniswa nevezera ravo. Mwana vakachengeta dehenya hypoplasia, nzvimbo yakaderera nzeve, strabismus uye ziso matambudziko. Kazhinji, vana ava vanotambura nezvirwere mwoyo. Varwere ava vari kurarama kwenguva - izwi kusvika makore 10. zvokurwara kwakadaro kuonekwa 1 kubva 45,000 nyaya.

Wolf-Hirschhorn urwere

Atsamwira mumwe chromosome 4 nomwe (Wolf-Hirschhorn chirwere) rinowanikwa muna 1 muna 100 000. Vana vane monosomy pamusoro chromosome 4 majoko, kazhinji kuwana mu vanaamai vechiduku uye madzibaba. Birth uremu iri shoma zvikuru pane dzose - anenge 2 makirogiramu. In vacheche, pane kunonoka kwomuviri nepfungwa kukura uye injini unyanzvi rakaoma ne zvishoma nezvishoma. Vanotambura underdevelopment yacho dehenya.

By chitarisiko chavo vanogona kuona beaked mhino, akakurumbira huma, yakaderera-kupfura nzeve, longitudinal mipendero pamberi nzeve. Vakanga varipowo tsandanyama flaccidity. Vakanga voda regai sei zviwane. Vana vakadaro ndivo pfari. Nechokunze, vanogona kuva zvemamiriro maumbirwo meso, duku muromo nemiromo vachirembedza panguva pamakona, rwakakombama tsoka. Kazhinji vana vanorwara vanotambura nezvirwere mwoyo. Kwakaitwa cheitsvo. Vazhinji pamwe ichi chromosomal kuparadzwa vana havafaniri kurarama kuti gore.

Orbeli urwere

Atsamwira kuti chromosome 13 rinonzi chirwere vaviri Orbely. Vana vanoberekwa vaine kutsauka ichi duku uremu - kusvika 2.2 makirogiramu. Vane chirwere anenge zvose zvomukati. Ivo underdeveloped dehenya, chinoshayikwa Bridge - huma pakarepo Minamato haipindurwe kuti mhino. The mhino ane rakawedzera upamhi, denga kumusoro, hura zvakare pasi. Mucheche vakacherechedza zvokurwara pakati hypoplasia pamusoro zvetsandanyama nemapfupa hurongwa. Pangava rwokuzvarwa mugero pamusoro mugaranhoko uye horo. Kazhinji kune chirwere mwoyo, itsvo chirwere, pfungwa chirwere. vana ava vanowanzotevedzera Oligophrenic kurwadziwa kwavo nezvipusha, kazhinji ivo atadze kuziva. Vacheche vasingagari kusvika 1 gore.

Monosomy - ichi chirwere ngozi chaizvo, uye vana vanoberekwa vaine haasaruri monosomy apo neapo. Vanaamai pamuviri havana kuchinja kwakadaro chiitiko chinosuruvarisa.

Matambudziko monosomy X

Vakadzi monosomy X kubatira zvirwere zvakasiyana-siyana zvomukati kazhinji pane utano vanhu majini. Vanofanira kuonekwa nachiremba uye vanosangana nguva nenguva zvokurapa bvunzo.

Kakawanda kuomesa iri renal kukundikana. Varwere vakadzi zvinowanzoitika zvirwere zviri urogenital nhengo, zvisina kukodzera yaiva, hadzina yakatanga itsvo zvakazara.

Monosomy Kana munhu ane nzvimbo kuti, dzimwe nguva anorwara kubva thyroid shwanu, iyo inobereka kukwana kwevari mahormone zvinodiwa nomuviri. The thyroid shwanu iri uchazvimba, nokuda chii chichaitika uye matambudziko aya. Treatment anogona chete kuva mushonga, kutsigira zvakajairika hormone nomwero. Vanofanira kuiganhura chiremba. Dzokuzvirapa haabvumirwi.

Kutambura kubva Turner chirwere vanogona kutanga celiac chirwere. zvokurwara Izvi kwakunoitwa kwaita Kurwara kuti puroteni gluten. Varwere haagoni kudya zvigadzirwa kubva gorosi nebhari.

Matambudziko anogona kupa chero monosomy. Zvirwere pematanho monosomy angava akasiyana, semuenzaniso, zvemwoyo chirwere. Vakadzi zvokurwara zvakakodzera nekuonekwa pamusoro cardiologist, uyo chamber mamiriro yeropa ravo uye kudzivirira kukura neBP.

Sezvo varwere Turner chirwere havatani kufutisa, vaigona kusangana chirwere cheshuga.

kurashikirwa kupfupfudzika

Nemagene zvirwere, kusanganisira monosomy mudumbu ichaongororwa mumwe zvinokonzera kurashikirwa pamuviri. Ndiyo rufu mudumbu mukati padumbu ramai. Monosomy kana ruchinge vhiki 12 pamuviri. Dzimwe nguva upenyu mudumbu zvakawanda - kusvika vhiki 20. ngozi iyi iri kusavapo fetus rimwe chromosome hangaiwa 1-22, vanonzi Trisomy. Monosomy inguva yokuti nemaune akatevedzana akazvitakura.

Kuedza kuponesa mudumbu zvakaoma. zvokukura abnormalities hachiratidzi musoro. Kurashikirwa pamuviri rinoguma zvinoguma nokupfupfudzika. pamutanhiko zvakadaro vakadzi pamusoro makore 35 - 40 makore, uye vaya ichi chakaitika kare.

Masayendisiti vakacherechedzawo zvinoderedza hunotarisira vakadzi monosomy, susceptibility kuti atherosclerosis, anomera upenyu.

monosomy kurapwa

Monosomy - mumwe zvokurwara, zvisina amenable kurapwa, asi vanachiremba vakabudirira kurarama nemigumisiro yacho. Musimboti marapirwo ndechokuti isingambokwanisi hormone murau ovaries muviri inoda kubata murau. Zvokurwara of zvomukati vari kwarapwa kana surgically. Nzwisisika kurapwa kunosanganisira:

• Supplementation vasikana kukura kemikari pakarepo pashure kuongorora chirwere.
• Pakazosvika makore pakuyaruka, vana utano kutambura monosomy, akarayira mahormone.
• Vaya vanoda kutakura mwana kuti vakadzi zvokurwara kunobatsira mushonga dzokubereka - okusuma zai anyatsoronga ane mberi nekuonekwa ari pamuviri.
• Mabatirwo pathologies ose nhengo dzomukati zvinodhaka ano uye kurapwa.
• kuti Psychological kubatsira vakadzi kuti ajairane evanhu kwezvakatipoteredza, kufungisisa peculiarities pamusoro physiology.

Anokosha pfungwa mukurapa ndiwo nenguva pakutanga kwayo - pakarepo pashure kuongorora chirwere. The pfungwa yechipiri - nhoroondo mhando monosomy. Kana mufananidzo 45H0, mukadzi havazokwanisi kuti mwana wavo angambosvika. rubatsiro Psychological vanofanira kugadzirira naye pfungwa yekutora mwana - nherera.

WaMosesi nemaonero monosomy X - 46XY pamwe kukura mishonga ano zvinoita kuti atakure mwana wake. Asi iye anogona kuzvarwa kurwara. Wokugamuchirwa Zvinosarudzwa mu musimboti ichi.