Trisomy 13, iyo inonziwo Patau syndrome, inonzi chirema chinokonzera chromosome 13. Vanhu vakawanda vane mapira maviri echromosome, asi vanhu vane Patau syndrome vane imwe yeropa yekromosome yegumi nematatu. Trisomy 13 isiri yakakura yemararamiro eti, uye vazhinji vana vane Patau syndrome vanofa vasati vaberekwa kana mukati vhiki yekutanga yeupenyu.
Kune ma 3 marudzi e trisomy 13:
- Trisomy yakakwana: Zvizhinji zvezviitiko zve trisomy 13 zvizere zvizere. Mumatambudziko akazara, masero ose ari mumuviri ane mapepa matatu echromosome 13.
- Trisomi yakasarura : Varwere vane tsvina dzisina kukwana havana kero yakawedzerwa yekromosome 13. Pane kudaro, vane chikamu chechikamu chechiromosome inowanikwa kune imwe chromosome mumasero avo.
- Mosaic: Varwere vane trisomy 13 mosaic vane imwe yakawedzerwa kopi yekromosome 13, asi mune mamwe masero emuviri.
Trisomi 13 inowanzokonzerwa nekukanganisa mune sepakati yekuparadzanisa. Kunyange zvazvo njodzi yekuwana mwana ane trisomy 13 yakakwirira mumama vakwegura, haina kupiwa nhaka uye haigoni kudarika mumhuri. Chimwe chete chinokonzera trisomy 13, iyo inogona kupiwa nhaka. Mhuri chero ipi zvayo ine nhoroondo yeTrisomy 13 inofanira kunge ine mazano ekupa mazita.
Zviratidzo zvePatau Syndrome
Nemhaka yekuti chromosome yakawanda iripo mumuviri wose, trisomy 13 inogona kukonzera matambudziko mumitemo yakawanda yomuviri.
Zvimwe zviratidzo zveTrisomy 13 zvinogona kurapwa nemishonga kana kuvhiyiwa, asi dzimwe dzisingatambudziki. Zviratidzo zvinosanganisira:
- Kuberekwa kwepakutanga: Vakawanda trisomi 13 mimba inoguma mukupererwa pamuviri kana kuberekwa. Vacheche vanoberekwa vari vapenyu vanowanzoberekwa nokukurumidza, nezera rinowanzoita gestational yemakore makumi maviri nemaviri. Vana ava vanofanira kurwisana nezvinetso zvekugadzirisa matambudziko pamwe nezvimwe zviratidzo zve trisomy 13.
- Kusasvibisa kwechiso: Vana vakawanda vane trisomy 13 vanoberekwa nemucheka uye / kana kuti marate palate. Meso anogona kuiswa pedyo pamwe chete uye anogona kubatana pamwechete kuti atange ziso rimwe. Nzeve dzinogona kunge dzakaderera, uye zvinetso zveganda pamukanda (cutis aplasia) zvakajairika.
- Matambudziko emwoyo: Kushata kwemwoyo kunowanzoonekwa kune vacheche vane trisomy 13. Makumbo pakati pemakamuri emwoyo (ventricular septal defect uye atrial septal defect) uye patent ductus arteriosus vanogona kuwanikwa mu trisomy 13.
- Matambudziko muuropi: Mune vamwe vana vane trisomy 13, mberi kweuropi hazviparadzanisi zvakanaka. Izvi zvinokonzera matambudziko ehupamhi akawanda ane chokuita nehutano. Vana vane Patau syndrome vane urema hwakanyanya hwepfungwa uye vangave vakagumburwa.
- Matambudziko emimba: GI matambudziko mune vana vane trisomy 13 inogona kusanganisira umbilical hernias uye inguinal hernias. Omphaloceles, uko chikamu chemukati chiri kunze kwemuviri, chinoitika pane dzimwe nguva.
- Skeletal zvinetso: Vana vane Patau syndrome vangave nezvimwe zvigunwe kana zvigunwe, zvigunwe maoko, kana kuti misshapen (rocker-pasi) tsoka.
- Zvinetso zvinopisa: Vana vakaberekwa ne trisomy 13 vanowanzoomerwa nokufema, kana kuti nguva dzinopera kufema kufema (apnea).
Inowanzoita Sei Vacheche Vane Trisomy 13 Kupona?
Trisomy 13 chirwere chakakomba.
Vakawanda vacheche vane trisomy 13 vanopera mukati mevhiki yekutanga, uye inowanikwa yeupenyu inenge mazuva mashanu. Vanenge 10% vanorarama nekuzvarwa kwavo kwekutanga. Vacheche vanoyera zvakanyanya pakuberekwa uye vane mavara ezvinyorwa zvemavara kana kuti zvingasarura zvingave zvingaita kuti vararame.
Kunyange zvazvo trisomi 13 inofungidzirwa sehosha inouraya isingaenderani noupenyu, mushonga wemazuva ano wakawedzera hupenyu hwehupenyu uye hupenyu hwevamwe vana vane Patau syndrome. Zvichienderana nekuoma kwemamwe zviratidzo, kuvhiwa kunogona kubatsira kugadzirisa mwoyo kana GI zviremera kana kugadzirisa fikisi. Kurapa kwakakodzera kwakabatsira vana vazhinji vane trisomy 13 kuti vave mufaro mukuru kumhuri dzavo kwemakore mazhinji.
Kana mwana wako ane trisomy 13, haufaniri kutarisana nehosha iyi chete. Mapoka ekutsigira uye mawebsite anogona kukubatsira kuti uwedzere kunzwisisa Patau syndrome uye usvike kune dzimwe mhuri dzakabatwa neTrisomy 13. Kukurukurirana nemudzidzisi wekuchera varwere vanogona kukubatsira kuti udzidze chii chaunotarisira kana mwana wako asingapfuuri kuchipatara, uye anokubatsira kusarudza mhando dzehupano hwaunoda kumwana wako.
References:
Rios, A., Furdon, S., Adams, D., & Clark, D. (2004). "Kuziva Zviratidzo zveTrisomy 13 Syndrome." Kufambira Mberi Mukurera Neonatal. Yakadzorerwa kubva: MDhttp: //www.medscape.com/viewarticle/496393_9
Nelson, K., Hexem, K., & Feudtner, C. (May 2012). "Inpatient Hospital Kuchengetwa Kwevana NeTrisomy 13 uye Trisomy 18 muUnited States." Pediatrics. 129 (5) 869 -876.
Swanson, J. & Sinkin, R. (Dec. 2013). Makliniki muPerinatology. "Kuberekwa Pakutanga uye Kuberekwa Kuberekwa Kusununguka: Kukurukurirana Kwakakomba." 40 (4): 629-44.
Genetics Home Reference. "Trisomy 13." Yakadzorerwa kubva ku https://ghr.nlm.nih.gov/condition/trisomy-13