Monosomy - ndi chiyani ichi?

Kapangidwe majini a anthu asakhale ndi vutoli awiriawiri 23 limanenedwa, amene amasiyana mawonekedwe ndi kukula. Kuti asakhale ndi vutoli waukulu 1. kuposa kukula kwa khromozomu 22 pafupifupi maulendo 4. 23 nsapato - ndi khromozomu X ndi Y. okhudza kugonana kwa anthu. Mu akazi 23 lili awiri 2 X DNA, makolowo ali anasankha XX. Mu amuna, 23 tichipeza awiri DNA X ndi Y, i.e., - awiri XY.

Pamene mwana wosabadwayo ndi kupangidwa, iwo ali ngati koma zizindikiro za munthu, koma awiriawiri 23 DNA ndiyo kugonana zamtsogolo kale mwana chiberekero cha mayi m'tsogolo. Previous awiriawiri 22 amatchedwa autosomes. Iwo adzakhala kuonetsetsa kukula kwa ziwalo zonse za mkati ndipo zimakhala mwana.

Osabereka monga monosomy chizindikiro

sterility Female kungakhale chifukwa cha pathologies zosiyanasiyana. Ngati kuphwanya dongosolo la awiriawiri 23 DNA, izo yaikidwa asanabadwe, pamene mayi angathe nayenso mu mkhalidwe wosabadwayo m'mimba.

Ngati awiri makumi awiri tchulani limodzi X khromozomu, kapena chawonongeka, monga chosayenerera otchedwa monosomy X. osabereka - chimodzi cha zizindikiro kwambiri kuvumbulutsidwa monosomy X. Modern mankhwala maphunziro mmene zizindikiro za matenda ndi njira zochizira izo.

Ndi chiyani icho?

Monosomy - zopatuka izi dzina la wasayansi amene anatulukira kuti ndi matenda Turner. matenda kumtundu yekha atsikana. Malinga ndi zomwe iye anasonyeza 1 milandu 2500.

Pa nthawi, kukula kwa mankhwala kuteteza Turner matenda n'zosatheka. Atsikana ndi matenda kungachititse munthu wabwinobwino, koma iwo ayenera achipatala, chifukwa angathe zosokonezeka.

Zizindikiro zina monosomy

Anapeza kuti atsikana ali ndi mwayi monosomy syndrome ana akhoza kukhala zizindikiro zotsatirazi matendawa:

• Kutangoyamba pathupi amangomvera ndi mapazi.
• Baby kumbuyo akamaphunzira kukula.
• M'kamwa mwa atsikana awa ndi apamwamba kuposa mwana pafupifupi, ndipo totsegulira pansipa.
• Odwala atsikana amakonda typesetting onenepa.
• Pali zambiri lathyathyathya.
• The zikope popachika otsika pa maso ake.
• Strabismus.
• khosi ndi adzafupikitsidwa.
• Pali thupi tsitsi ziwalo.
• Adzafupikitsidwa manja.

Kuwonjezera matenda amenewa, atsikana, tingaone:

• matenda a mtima (nesmykaemost vavu khoma).
• Liwiro isanayambike msinkhu.
• Kumva mavuto.
• Pafupipafupi kuthamanga magazi (matenda oopsa).
• Lekeza matenda kugwirizana ndi matenda m'khutu.
• maso youma.
• Kulakwila kaimidwe, mpaka kupindika msana pa.

Kumbali ya chitukuko kugonana anati:

• Disproportionality wa maliseche kunja.
• Chimanga chosakhwima pachifuwa.
• Chosowa tsitsi thupi pansi m'khwapa ndi pamwamba pubis lapansi.
• uterine underdevelopment.
• Popeza kapena wongokhala wa thumba losunga mazira ndi.
• Yafupika milingo mahomoni wamkazi.
• Kusamba passivity, mpaka kupanda kusamba.

The zimawavuta kwa zizindikiro za matenda ndi zizindikiro zomwezo akhoza anati matenda ena. Ngati ali ndi mtsikana wa msinkhu uliwonse, m'pofunika mayesowo kuchipatala.

Imodzi mwa mbali khalidwe monosomy DNA kugonana ndi khungu owonjezera pa m'mbali mwa khosi, imene imagwiritsidwa ndi khola kotenga.

Zimayambitsa monosomy

Pa nthawi imeneyi chitukuko cha sayansi sanathe kukhazikitsa chifukwa cha mwana wosabadwayo monosomy mwatsatanetsatane. Kodi amadziwika motsimikiza - palibe kudwala kugwirizana ndi chibadwa. Chikoka chachikulu pa zosayembekezereka matenda a khungu la mwana wosabadwayo matenda majini kugonana bambo padziko pathupi. Ichi ndi zazikulu chifukwa monosomy.

Ngati chibadwa bambo akhala akukonza ndi kusintha zimene zinachitika kusintha kwa kapangidwe ka X khromozomu, mwanayo - msungwana, nawonso imawonongeka awiriawiri 23 DNA. Koma tisaiwale kuti m'banja kusiya kukhala ana sikuthandiza. The bambo ndi kuphwanya X-khromozomu N'kutheka mimba ndi kubadwa kwa mwana wathanzi ndi.

N'chifukwa chiyani monosomy wa X khromozomu? Zimayambitsa matenda ndi kuphunzira, koma panthawi imeneyi ya mankhwala akhoza kunena izi:

• Zadzidzidzi monosomy mu wosabadwa si kugwirizana ndi zinthu chowawa kunja.
• kudwala Izi si tinatengera. Apo ayi, imakhoza atsikana onse a bambo jini-anavulala.
• The zambiri chifukwa cha matenda Turner - mmene zinthu zoipa pa maselo kugonana ya bambo ake atatsala pang'ono kutenga pakati.
• Pa gulu la zygote ndi kusintha mu Ndisanaumbidwe ndi kumachitika malfunctions amene amayambitsa ndi zithunzi-mtundu monosomy.

matenda a matenda

Kuti monosomy wa khromozomu mu mwana wosabadwayo amene ankalamulira, ngakhale asanabadwe pa matenda akazi kuti ndikuyesedwa wapadera chibadwa. Izi kafukufuku - akalandire chithandizo majini kusanthula - zikuphatikizapo ultrasound bwinobwino ndi biopsy minofu ndi khungu la chipatso, ndi yopimira magazi.

Kuphunzira kotereku lalikulu dokotala n'kukulemberani, pamene izo zifika kuti, kusiya zipatso kapena kutsirizitsa mimba. Chotero, kutumikiridwa mu miyezi 3 mimba. Ndiko kuti, ngati banja si kuthetsa nkhani, kapena angakhale mwana, kafukufuku si yoikidwiratu.

dokotala angakulangizeni kuyezetsa majini kuti monosomy wa khromozomu 21 anali lilibe ngati:

• Mayi woyembekezera zaka zoposa 35.
• Banja la wapakati ananena cholowa kudwala.
• Mu banja, pakhala milandu Chimaona (a osalimba) X khromozomu.
• Kukayikitsa hemoglobinopathies.
• Kukayikitsa ozerezeka mwana ndi ofanana ena chibadwa, zinthu chowawa.

Pamene matenda amaganizira zinthu zimenezi ndi kafukufuku sayenera kuvulaza thanzi la mayi kapena mwana, si kutilepheretsa wa mwana wosabadwayo. Madokotala kuchititsa diagnostics ayenera kukhala woyenera kwambiri kwa kupanga kafukufuku wa matenda.

Pamaso pa majini kuyezetsa mkazi ayenera kukumana ndi mosamala Kupenda ndi gynecologist pachipatala chake, dokotala asanasankhe pakati pa chiopsezo likukhudza, mwachitsanzo. E., kaya pali n'zotheka kuti mwana wosabadwayo adzakhala kutuluka monosomy syndrome. Only patapita yankho zabwino funso limeneli amachitira kuyezetsa pakati chibadwa.

Mu matenda akalandire chithandizo, palinso njira zina - ndi puncture wa nembanemba ndi cholinga kutenga pa kusanthula madzimadzi amniotic, zitsanzo magazi kuchokera chingwe umbilical, Fetoscopy. Yotsirizira ndi oyamba a kafukufuku ndi yoopsa Kupenda therethrough. Fetoscopy ntchito kwambiri kawirikawiri, chifukwa pa mlingo pano chitukuko zipangizo zachipatala, njirayi bwinobwino m'malo mwa ultrasound.

Ngati mwana wosabadwayo sichinayambe wapezeka mu nthawi monosomy wa X khromozomu, ndipo panali kukayikirana matenda zaka zingapo pambuyo pa kubadwa, ndi kafukufuku wochititsidwa atsikana m'njira zotsatirazi:

• Tanthauzo chifukwa analibe kugonana chromatin.
• Anatsimikiza mtima karyotype.
• Gwirani zokambiranazo gynecologist mwana.
• Pangani US a kumaliseche mkati.
• Pa zaka mayeso zaka 9-10 magazi mahomoni.
• Zoikidwa ndi X-ray manja kukumana chitukuko cha fupa zaka ponseponse.

Malinga ndi kafukufuku pogwiritsa ntchito yapadera akhale pa chisankho chilema.

mitundu monosomy

Monosomy - matenda omwe angakhale osiyanasiyana. Pa kubadwa kwa msungwana lachiwiri awiri khromozomu XX mwina kwina palimodzi. Mtundu inaikidwa monga chibadwa 45H0. atsikana Awa ndi kwina kapenanso chimanga chosakhwima thumba losunga mazira ndi chiberekero. Awo msinkhu sichichitika. No khromozomu, amene amasankha chitukuko cha makhalidwe sekondale kugonana, ziwalo kugonana okha timadzi zokhudzana.

Ngati khromozomu wachiwiri awiri XX pano, mtundu majini 46 XY. Mu nkhani iyi, mtsikana ndi chiberekero ndi thumba losunga mazira, koma iwo adzakhala ndi dongosolo achikalekale, T. E. Iwo sadzatha kuti ovulate ndi pakati mwana.

Zambiri zoopsa choncho pamene khromozomu wina akusowa awiriawiri 1 - 22. Awa amatchedwa autosomes. Mu chitukuko wabwinobwino wa zygote mukachipinda 2 zimatumizidwa DNA osiyana mitengo yake yonyamulira. Ngati wina alibe autosomes, mzati maselo ndi atuma kuti asakhale ndi vutoli panopa. Pa confluence ake ndi wathanzi, ndi zygote analandira ndi chiwerengero nthenda DNA. Izi limadzetsa imfa yoopsa ndi mimba lachibadwa. Ngati topangira DNA ndi ochuluka 1 kuposa wosasintha, mimbayo mwina sizichitika, koma ngati mwana wakhanda wabadwa, sanathe kukhala nthawi yaitali.

tsankho monosomy

Tsankho monosomy wa khromozomu breakage pamene anapanga, umene awiri kumanzere ndipo ina ya khromozomu chachiwiri. Chifukwa cha matenda ndi structural rearrangement wa chromosomal kugonana maselo kholo nthawi atatsala pang'ono kutenga pakati. Zotsatira za matenda zimadalira wotani khromozomu anakumana chiwonongeko tsankho.

Syndrome "mphaka kulira"

Kuwonongedwa kwa mbali ya nsapato khromozomu 5 amalenga matenda a "kulira mphakayu." M'phuno odwala mwana mwapang'ono, chichereŵechereŵe zofewa, chifukwa mu kulira kwa mwana akufanana mphaka meowing.

Kwa mtundu uwu amagwiritsidwa yodziwika ndi minofu flaccidity mwana, kachigawo woboola pakati nkhope, retardation maganizo ndi kwanthawi thupi poyerekeza ndi anzawo. The mwana anati chigaza hypoplasia, otsika malo makutu, strabismus ndi diso mavuto. Childs, ana awa akudwala matenda mtima. odwalawo tikukhala yaitali - akuti kwa zaka 10. kudwala amenewa anawona milandu 1 kunja kwa 45.000.

syndrome Wolf-Hirschhorn

Chophukacho wa munthu awiriawiri khromozomu 4 (Wolf-Hirschhorn syndrome) akupezeka 1 100 000. Ana amene ali monosomy wa awiriawiri khromozomu 4, nthawi zambiri zopezera achitsikana ndi makolo. Kubadwa kulemera ndi zochepa kwambiri kuposa zachibadwa - 2 kg. Makanda, pali kuchedwa kukula ndi galimoto luso thupi ndi maganizo ndi kumva mwa pang'onopang'ono. Iwo zowawa underdevelopment a Chigaza lapansi.

Ndi maonekedwe awo akhoza kuona mphuno beaked, otchuka mphumi, makutu otsika-slung, makutu kotenga kutsogolo kwa makutu. Iwo pano minofu flaccidity. Iwo pafupifupi samva zimene zikuchitika kunja. Ana otere ndi khunyu. Kunja, mwina ndi dongosolo nthenda ya maso, pakamwa ang'ono ndi kuŵeramitsa milomo pa ngodya, zokhota mapazi. ana odwala zambiri akudwala matenda mtima. Anakhudzidwa impso matenda. Ambiri mwa ana ndi chionongeko chromosomal siukhala kwa chaka.

syndrome Orbeli

Chophukacho wa khromozomu 13 wotchedwa awiri syndrome Orbely. Ana obadwa ndi kupatuka ndi yaing'ono kulemera - mpaka makilogalamu 2.2. Ali ndi matenda pafupifupi onse ziwalo. Iwo underdeveloped Chigaza, kusowa mlatho - mphumi yomweyo masiwichi kwa mphuno. Mphuno ali ndi m'lifupi bwino, thambo ndi mkulu, makutu otsika kwambiri. Wakhanda anaona kudwala wa hypoplasia a dongosolo minofu ndi mafupa. Pasakhale njira achilengedwe a rectum ndi chotulukira. Nthawi zambiri pali matenda a mtima, matenda a impso, matenda ubongo. ana awa amakonda Oligophrenic mazunzidwe awo khunyu, iwo nthawi zambiri kutaya kutsitsimuka. Ana siukhala 1 chaka.

Monosomy - ichi ndi matenda oopsa kwambiri, ndi ana amabadwa ndi tsankho monosomy yosowa kwambiri. amayi oyembekezera mulibe kusintha nkhani wotelo.

Zovuta monosomy X

Akazi ndi monosomy X sachedwa matenda osiyanasiyana ziwalo mkati ndi zambiri kuposa anthu athanzi chibadwa. Iwo ayenera kuonedwa ndi dokotala ndi kubatizidwa mayeso nthawi zachipatala.

Pafupipafupi Vuto ndi aimpso kulephera. Odwala akazi amayambira matenda a ziwalo urogenital, yosayenera ili, si kwathunthu anayamba impso.

Monosomy Ngati munthu ali ndi malo kukhala, nthawi zina ankadwala chithokomiro England, umene umabala milingo osakwanira mahomoni ofunika thupi. Mabele England ndi kuvutika chifukwa cha zomwe zikuchitika ndi mavuto awa. Chithandizo kokha kumwa mankhwala, thandizani zachilendo m'thupi bwino. Iwo kukhala akapitawo dokotala. Self-mankhwala sikuloledwa.

Akudwala matenda Turner angayambe matenda celiac. kudwala imeneyi yafotokozedwera zikamera wa chifuwa kwa mapuloteni gilateni. Odwala sangathe kudya mankhwala opangidwa kuchokera tirigu ndi balere.

Zovuta angapereke monosomy iliyonse. Matenda kuti ayende monosomy angakhale osiyana, mwachitsanzo, mtima matenda. Akazi ndi kudwala zofunika ananena cardiologist, amene amaona udindo kwa msempha awo ndi kulepheretsa chitukuko cha matenda oopsa.

Popeza odwala matenda Turner sachedwa kunenepa, iwo akanatha kulimbana ndi matenda a shuga.

anaphonya mimba

matenda chibadwa, kuphatikizapo monosomy mwana wosabadwayo ndi chimodzi mwa zifukwa zimene mimba anaphonya. Iyi ndiyo imfa ya mwana wosabadwayo m'mimba mayi. Monosomy pamene izo zinachitika kwa masabata 12 a mimba. Nthawi zina moyo wa mwana wosabadwayo kwambiri - mpaka milungu 20. vuto limeneli ndi pakalibe yoopsa wina awiri khromozomu 1-22, otchedwa trisomy. Monosomy ndi mpata kusokoneza dala mimba.

Pofuna kupulumutsa mwana wosabadwa ndi aakulu kuvutika kakulidwe sizikuwoneka zanzeru. Anaphonya mimba itha padera. chiopsezo oterowo ndi akazi pa zaka 35 - zaka 40 zakubadwa, ndipo amene zimenezi zachitika kale.

Asayansi anaonanso kuchepetsa moyo amayembekezeka akazi ndi monosomy, chiwopsezo kuti atherosclerosis, zotupa.

monosomy chithandizo

Monosomy - ndi kudwala, omwe si amenable mankhwala, koma madokotala kulimbana ndi mavuto ake. Akamanena za mankhwala ndi wopanda m'thupi lamulo mazira thupi ayenera lamulo yokumba. Kudwala ziwalo mkati ali kuchipatala kapena opaleshoni. chithandizo Mabuku zikuphatikizapo:

• Supplementation atsikana kukula timadzi yomweyo pambuyo matenda.
• Ndi zaka msinkhu, ana athanzi akuvutika monosomy, mankhwala mahomoni.
• Amene akufuna kubereka mwana akazi ndi kudwala amathandiza mankhwala ubereki - oyamba a ukala dzira mwiniwake ndi kuonerera zina mimbayo.
• Chithandizo cha pathologies a ziwalo ndi mankhwala amakono ndi mankhwala.
• thandizo maganizo kwa akazi kuti azolowere chilengedwe chikhalidwe, kutenga peculiarities nkhani ya Maphunziro Akakhalidwe Kazolengedwa.

Mfundo zofunika kwambiri mankhwala ndi yake chiyambi chake - atangotha matenda. Mfundo yachiwiri - nkhani mtundu monosomy. Ngati mtundu wa 45H0, mkazi sangathe kukhala mwana wawo mwa njira iliyonse. thandizo maganizo akonze ake ndi maganizo kukhala ndi mwana - wamasiye.

Mose view wa monosomy X - 46XY ndi chitukuko cha mankhwala amakono limachititsa kubala mwana wake. Koma iye abadwe odwala. Kukhazikitsidwa adalipo mu chimake izi.