Patinofunga nezve Down's syndrome, mamiriro ekutanga atinofunga nezvawo ndeye trisomy 21, kana kuti Down syndrome. Zvekuti kana tichitaura nezvemunhu ane Down's syndrome, tinotoona kuti ane Down's syndrome.
Nekudaro, trisomy inotsanangura pamusoro pezvese genetic anomaly, uye saka inogona kutora mafomu akasiyana. Saka kune marudzi akati wandei eDown's syndrome.
Chii chinonzi Down's syndrome?
Down's syndrome iri pamusoro pese nyaya ye okutodza. Isu tinotaura nezve aneuploidy, kana zvakanyanya kungoita chromosomal anomaly. Mumunhuwo zvake, asingatamburi neDown's syndrome, machromosome anoenda ari maviri maviri. Kune 23 mapeya emachromosome muvanhu, kana 46 machromosomes mune ese. Isu tinotaura nezve trisomy kana imwe yemaviri isina maviri, asi machromosome matatu.
Iyi chromosomal anomaly inogona kuitika panguva yekugoverwa kweiyo genetic nhaka yevaviri vanobatana panguva yekusikwa kwemagametes (oocyte uye spermatozoon), ipapo panguva yekusangana.
Down's syndrome inogona kukanganisa chero maviri echromosomes, inonyanya kuzivikanwa inyaya ye21st chromosomes. Muchokwadi, panogona kuve nematrisomies akawanda sekunge paine mapeya emachromosome. Muvanhu chete, matrisomies mazhinji anopera nenhumbu, nokuti "embryo" haigone kushanda. Izvi zvinonyanya kuitika kune trisomy 16 uye trisomy 8.
Ndeapi marudzi anonyanya kuwanda eDown's syndrome?
- Trisomy 21, kana Down syndrome
Trisomy 21 ndiyo parizvino chekutanga chakaonekwa chikonzero che genetic mental deficit. Ndiyo zvakare yakajairika uye inoshanda trisomy. Inoonekwa paavhareji panguva yekuzvitakura kwe27 kubva pagumi uye kuwanda kwayo kunowedzera nezera reamai. Kune vanenge 10 vanozvarwa vana vane Down's syndrome pagore muFrance, maererano neLejeune Institute, iyo inopa. rubatsiro rwekurapa uye rwepfungwa kune vakabatwa.
Mu trisomy 21, chromosome 21 iri mumativi matatu pane maviri. Asi kune "subcategories" kuratidza trisomy 21:
- yemahara, yakakwana uye ine homogeneous trisomy 21, iyo inomiririra inenge 95% yezviitiko zve trisomy 21: makromosomes matatu 21 akaparadzaniswa kubva kune mumwe kune mumwe, uye kukanganisa kwakaonekwa mumasero ose akaongororwa (zvishoma izvo zvakaongororwa murabhoritari);
- mosaic trisomy 21 : masero ane 47 chromosomes (kusanganisira 3 chromosomes 21) anogara nemasero ane 46 chromosomes kusanganisira 2 chromosomes 21. Chikamu chezvikamu zviviri zvemasero chinosiyana kubva kune imwe nyaya kuenda kune imwe uye, mumunhu mumwe chete, kubva kune mumwe munhu kune mumwe. nhengo kana tishu kune tishu;
- trisomy 21 by translocation : iyo karyotype genome inoratidza machromosomes matatu 21, asi haasi ese akaunganidzwa pamwechete. Imwe yemachromosomes matatu 21 inogona semuenzaniso kuva nemakromosomes maviri 14, kana 12 ...
Zviratidzo zvikuru zveDown's syndrome
« Wese munhu ane Down's syndrome anotanga pane zvese iye, akasiyana, ane yakazara genetic nhaka uye nzira yake yekutanga yekutsigira iyi yakawandisa yemajeni. », Details the Lejeune Institute. Kunyange paine musiyano mukuru wezviratidzo kubva kune mumwe munhu ane Down's syndrome kuenda kune mumwe, pane zvimwe zvinowanzoitika mumuviri nepfungwa.
Kuremara kwenjere inguva dzose, kunyangwe ikanyanya kana kushomeka kubva kune mumwe munhu kuenda kune mumwe. Kune zvakare hunhu hwezviratidzo zvemuviri: musoro mudiki uye wakatenderera, mutsipa mudiki uye wakafara, maziso akasvinura, strabismus, midzi yemhino isingazivikanwe, maoko akasimba uye zvigunwe zvipfupi ... congenital complications dzimwe nguva inogona kuwedzerwa kune izvi zviratidzo, uye inoda kutariswa kwakawanda kwekurapa: moyo, ziso, kugaya, kukanganiswa kwemapfupa ...
Kuita zvirinani kutarisana nematambudziko aya uye kudzikisira kuremara kwemuviri nepfungwa, multidisciplinary kutarisira vanhu vane Down's syndrome : geneticists, psychomotor therapists, physiotherapist, matauriro ekurapa ...
- Trisomy 13, kana Patau's syndrome
Trisomy 13 inokonzerwa nekuvapo kwechitatu chromosome 13. The American geneticist Klaus Patau ndiye akatanga kuzvitsanangura, muna 1960. Chiitiko chayo chinofungidzirwa pakati pe1 / 8 uye 000 / 1 kuberekwa. Iyi genetic anomaly zvinosiririsa ine zvinokonzeresa kumwana abatwa nechirwere ichi: kuoma kwecerebral uye cardiac malformation, meso anomalies, malformations eskeleton uye digestive system…. Ruzhinji (rungangosvika 15-000%) rwevachangobva kubatwa vanofa in utero. Uye kunyangwe akararama, mwana ane Down's syndrome ane tarisiro yeupenyu yakaderera zvikuru, mwedzi mishomanana kusvika kumakore mashomanana zvichienderana nekukanganiswa, uye kunyanya muchiitiko che mosaicism (ma genotypes akasiyana aripo).
- Trisomy 18, kana Edwards syndrome
Trisomy 18 inoratidza, sezvinoreva zita rayo, kuvapo kweimwe chromosome gumi nesere. Iyi genetic anomaly yakatanga kutsanangurwa mu18 neChirungu geneticist John H. Edwards. Kuitika kweiyi trisomy kunofungidzirwa pa1/6 kusvika 000/1 vanozvarwa. Mu18% yezviitiko, trisomy 95 inoguma rufu in utero, inovimbisa iyo Orphanet saiti, portal yezvirwere zvisingawanzo. Nekuda kwekukanganisika kwemoyo, tsinga, kugaya kana kushaya renal, vana vachangozvarwa vane trisomy 18 vanowanzofa mukati megore ravo rekutanga rehupenyu. Ne mosaic kana translocation trisomy 18, tarisiro yehupenyu yakakura, asi haipfuure zera.
- Down's syndrome inokanganisa machromosome ebonde
Sezvo trisomy ichitsanangurwa nekuvapo kweimwe chromosome mukaryotype, machromosomes ese anogona kubatanidzwa, kusanganisira machromosome epabonde. Zvakare kune matrisomies anokanganisa maviri eX kana XY chromosomes. Mhedzisiro huru yeiyi trisomies kukanganisa mabasa akabatana nemakromosomes epabonde, kunyanya mazinga ehomoni dzepabonde uye nhengo dzekubereka.
Kune marudzi matatu epabonde chromosome trisomy:
- trisomy X, kana katatu X syndrome, kana munhu ane machromosome matatu eX. Mwana ane trisomy iyi munhukadzi, uye haapi matambudziko makuru ehutano. Iyi genetic anomaly kazhinji yakawanikwa mukukura, panguva yekuongororwa kwakadzama.
- Klinefelter syndrome, kana XXY trisomy : Munhu wacho ane machromosome maviri eX uye imwe Y chromosome. Munhu wacho kazhinji murume, uye kushaya mbereko. Iyi trisomy inokonzera matambudziko ehutano, asi pasina hurema hwakakura.
- Jacob's syndrome, kana trisomy 47-XYY : kuvapo kwema chromosome maviri e Y uye imwe X chromosome. Munhu wacho murume. Iyi genetic anomaly haikonzeri hapana hunhu zviratidzo huru, inowanzoonekwa mukukura, panguva yekaryotype inoitwa kune chimwe chinangwa.
Zvishoma zviratidzo, izvi genetic abnormalities maererano ne X uye Y chromosomes haawanzoonekwa. mudumbu.
Kune rimwe divi, mamwe ese trisomies (trisomy 8, 13, 16, 18, 21, 22 ...), kana vasina kungoerekana vaguma nokubva kwepamuviri, vanowanzo fungidzirwa pa ultrasound, kupiwa kukura kunonoka, kushandisa nuchal translucency kuyerwa, trophoblast biopsy, kana kuti 'an amniocentesis, kuita karyotype kana ichifungidzirwa trisomy. Kana trisomy inoremadza ichiratidzwa, kubviswa kwekurapa kwepamuviri kunotsanangurwa neboka rekurapa.