Kuputsika X Syndrome: zviratidzo, zviratidzo uye kurapwa zvaiitwa

The kuitika nokukurumidza kukura wemishonga akabvumira vanhu kuti uvhure yakawanda zvirwere wamboonekwa. Of Kunyanya kukosha muzana remakore rechimakumi maviri vairidza inopangidza pakati majini code, izvo zvakaita kuti tikwanise kuziva zvinokonzera zhinji kuvabereki uye chromosomal abnormalities. Kune zvinopfuura 3000 zvirwere chokuita quantitative uye Qualitative kuchinja majini zvinhu. A chirwere yerudzi itsva kusimba X Syndrome, iro rine kumbonyanya yakakwirira chikamu mwana akaremara.

Martin Bella chirwere - munhu chirwere kana chetsinga nyonganyonga?

Kuputsika X Syndrome - vachiberekwa abnormality chokuita fragility yacho X chromosome. Pfungwa yokuti 'fragility "rinoreva munhu unopinza aienda pamusoro kuona kuguma X chromosome. Kuchinja kwakadaro zvisimbiswe kusimba X Syndrome. Photos of vana vakasiya inoratidza backlog pamusoro psychomotor kukura, izvo zvinowanzoita kuti kuchinja muduku.

zvikonzero

Sezvo chikazozikamwa, vanhu genotype iri OK - zviri 46 okutodza, vaviri iyo - zvepabonde X uye Y. In vakadzi, ukuwo, ari mashoko okutodza yakatarwa vachatarira akafanana - 46 XX, uye varume - 46 HU. Vatakuri izvi yokugara mashoko kuchibva amino iine acid ngetani repetitions, izvo akaisa mashoko nemamiriro uye mashandiro anoita nezveramangwana mupenyu muviri.

Kurwara Martin Bella (kusimba X-chromosome) anova nokuda zvachinja X chromosome, saka unogona kukuvadza vose vakadzi nevarume. Rive dete mugove X- chromosome nokuda munhu pathological kuwedzera chaiyo amino asidhi residues kuti anodzokorora - cytosine-guanine-guanine (C-G-T). Kubatana uku reps imomo kanoverengeka mune mamwe majini, asi zvakakosha Chokwadi, nhamba repetitions. Kazhinji hazvina yemakomo kubva 29 kusvika 31. Kana ari Martin-Bell Syndrome mari kwakadaro zvikuru kwakawedzera uye vanogona vasangana kubva 230 kusvika 4000 nguva, zvinoita kuti kuwedzera chromosome naGene akananga vasingadzoreki inoshanda - FMR1, riri basa zvakarurama nokufambira kukura huta maitiro. Mugumisiro zvinooneka pashure pfupi pashure pokuberekwa uye kunoratidzwa psychomotor retardation.

Matafura mikana

Kuwanda repetitions cytosine-guanine-guanine kunokonzera embodiments siyana kunotoda kurapwa chirwere Martin-Bell. The chirwere angava zvakavanzika siyana. Kana chidzidzo kunoratidza 55 kusvika 200 rinodzokorora, ipapo premutation - kuchinja muganhu kuti munhu mutakuri, asi pasina zvinooneka rokuchinja tsinga. In yechirimwa uye nokukwegura angatanga ataxic chirwere uye chikuru ovarian kukundikana vakadzi. The ndingangokuvara kwemashoko chirwere zvakakwirira. Mari dziri chinhu zvenguva Hurumende - mumwe nucleotide rinopamhidza 40 kusvika 60, izvo akaora richiratidzwa asina nhaka kunogona kuonekwa mukati zvizvarwa shoma.

Kuparadzwa kwemasimba kumatunhu

Dzinza rako kutakura chirwere boka pathologies, bonde-kwakabatana, kureva, pamwe chete X chromosome. Varume, chirwere pachena pacharo zvakawanda uye zvakajeka, sezvo genotype yavo ine X chromosome. Vakadzi zvokurwara ikabuda nyaya zvose "pathological" X-autosomes. Very kashoma, varume vanogona premutatsionny chisarudzo uye mutakuri. Vakadzi vane yekudyidzana kazhinji kuita Vector kuzvidzora, pamwe zvichipfuura "pathological" chromosome zvakaenzana fungidziro yokuti vanasikana nevanakomana kuti. baba vanorwara zvinogona kutapurira X-chromosome chete vanasikana. Nhaka chirwere zvishoma nezvishoma kunowedzera kumarudzi namarudzi, kuti yakazozivikanwa seshanduro Sherman gangaidzo. The kunotoda weboka chirwere kunorema zvikuru kupfuura vanhu.

zviratidzo

Kusimba X Syndrome, zviratidzo izvo akafanana autism, hapasi kuva nguva kuziva kunyange ane ruzivo wevana kana wetsinga.

The kunotoda mufananidzo dzingasiyana zvichienderana nokuwanda repetitions ose C-yy.

Mumazuva ainakidza shanduro kunonoka psychomotor kukura rinoratidza zvinogona Martin-Bell syndrome. Photo of mwana kunoita kuti uone wokutanga chakanangana zviratidzo chirwere. Kune kuvhiringidzika uye discoordination kufamba, tsandanyama simba hwapedyo. Kazhinji, vana vanotambura autism. On ongororo, chiremba wetsinga anoratidza nokuvhiringidzirwa ari oculomotor etsinga , uye vamwe zvarakasiya muuropi. With zera, zvinhu zviri kuwedzerwa, kuwedzera zvishoma nezvishoma anopa pfungwa retardation.

Nguva dzose chirwere chepfungwa varipo: mwana kazhinji anoerekana ati, unmotivated anoratidza grimaces kazhinji Anorova namaoko ake, dzimwe nguva achiita chaizvo rinopikisa. Zviratidzo kwakadaro fananei schizophrenia. Munogonawo autism, iro rakatanga kutanga achiri muduku.

Kuputsika X Syndrome: Zviratidzo

A chaicho chinoratidza Vakomana ndiko kuwedzera ukuru manhu (makroorhizm), asi zvinogona kuonekwa chete pakuyaruka. Muchiitiko chino, chero kwemakemikari anobudiswa wenyonganyonga hatisi.

Change chitarisiko zvinoitika vasiri dzakananga, asi vanogona kusangana chiremba kuwana zvakanaka zvawanikwa. Mwana anowanzo hombe musoro, refu nechiso uye zvishoma curved rostral muromo mumhuno. Pane vane miganhu makuru nezvigunwe, minwe vane yekudyidzana zvakawedzera zvakawanda inofamba. Kazhinji, ganda ane mukuru elasticity.

Kuratidzwa premutatsionnogo musiyano wezvinyorwa denda mamwe maitiro. Nokuti ataxia chirwere hwokuratidza tremor uye havachanyatsogoni ndangariro, kunyanya pfupi, pane kuchinja Kwemanzwiro uye zvishoma nezvishoma kukura dementia pamwe kuparara kwezvinhu zvishande mashandiro (nekusagona kuverenga uye kunzwisisa kutaura). Symptomatology anovandudza kakawanda nevanhu keriya uye ane zvakawanda kwazvo nzira pane vakadzi.

Primary ovarian kukundikana dzinoratidzwa chitarisiko vakurumidze kubereka uye kuvhiringidza kushanda hurongwa, "ari pituitary-ovarian". Content kunowedzera follicle nekurukurirano kemikari, zvichiita kuti chitarisiko uye kunyangarika kumwedzi vegetative zviratidzo. The chirwere mberi zvishoma uye zvinoda kemikari yokutsiva mishonga.

How rokuongorora kuti urwere

Nokuti anofungidzirwa kutsunga hosha iri tanga mwana akakodzera cytogenetic nzira. It kunoitika fenzi murwere muchitokisi zvinhu uye akawedzera vhitamini V₁₀ (folic acid) ari provocateur kuchinja okutodza. Kwapera nguva, pakudzidza kunoratidza chromosome pamwe zvinokosha rive dete, zvichiratidza kuti chirwere Martin-Bell, zvisina kusimba-X syndrome. Izvi murabhoritari ongororo nzira iri zvakakwana yakarurama panguva akazotevera matanho kwete, nokuda rakakura kushandisa multivitamins, izvo zvinosanganisira folic acid.

Zviri zvikuru chaizvo polymerase cheni maitiro (PCR), izvo zvinoita kuti decipher nemamiriro ose amino asidhi residues ari X chromosome uye anoratidza zvisina kusimba X Syndrome. Photos zvinoitwa ane Erekitironi maikorosikopu, inoratidza nzvimbo rive dete autosomes.

A vakaparadzana, achiri chaiwo musimboti ndiyo wemishonga PCR chete kuonekwa mune rirambe richibvira electrophoresis. Uyu muedzo zvakarurama anoona chromosome abnormalities pavarwere vane ataxic chirwere uye chepuraimari ovarian kukundikana.

mabatiro

Mushure PCR, uye zvokuongorora kuti "kusimba X Syndrome", kurapwa vanofanira kutanga nokukurumidza sezvinobvira.

Sezvo chirwere chiri vachiberekwa uye ane chromosomal mavambo, kurapa ipfupi kuderedza chikuru zviratidzo chirwere.

Dzokurapwa hwokuvhariridza zvainanga kurerutsa zvinozonzi psychomotor retardation, kuchinja kururamiswa ataxic chirwere uye hormone rutsigiro chepuraimari ovarian kukundikana.

Vana vane pfungwa retardation uye akasimbisa nemhaka PCR rokuongorora "kusimba X Syndrome". Russia ine nachiremba zvivako, apo rokuchinjwa izvi vana, saka kurapa kwave wevana ndokurondedzera nenyanzvi. Pakarepo zvinofanira kucherechedzwa kuti pakurapa vana zvinobudirira kupfuura vakuru. Nzira kuti zvishande zvounhu kurapa namazvikokota chiremba wepfungwa nomunhu, kurovedza muviri, chiedza mhando muviri. A yerudzi rutsva Muitiro ndiko kushandiswa kugadzirira kwakavakirwa folic acid, asi zvibereko zvakawanda kure akadzidza.

Adult zvokurapa kurapa zvinosanganisira muviri uye antidepressants, ndakaiswa kugara simba zvichiongororwa pedyo chiremba wepfungwa uye wepfungwa. In private kiriniki aite zvirongwa microinjection gadziriro "cere the" nezvinogadzirwa nomukaka, cytomedines (mishonga "Lidaza", "Solkoseril").

Kana akashandisa nootropics ataxic chirwere uye ropa thinners, angioprotectors uye wemisanganiswa ose amino acids. Primary ovarian kukundikana vakadzi estrogens uye mishonga yemakwenzi riri pasi kururamiswa.

Kubudirira kurapwa wacho pasi, asi anobvumira kuti zvimwe nguva yokurembedza pasi kuchiita chirwere.

dziviriro

The chete nzira Kudzivirira ari achivhara vakadzi vane pamuviri. In dzakabudirira
nyika akatanga kuongorora kuti anogona kuona kusimba X Syndrome achiri Danho uye kugumisa pamuviri. An nzira musimboti uri ezvokunambira kunze kwomuviri waamai fertilization, izvo zvinogona kukonzera nechokwadi kuti mwana nhaka remangwana "utano" X chromosome.