Vanhu vane Cat Eye Syndrome Ivai neKutarisa Kwakasiyana
Cat eye syndrome (CES, inozivikanwawo seSchmid-Fraccaro syndrome), iyo inokonzerwa nechromosomal isingazivikanwi uye inotumidzwa mushure mokunge maziso akafanana nekati yakaita sei. CES inokonzerwa nechiremera chema genetic chromosome 22, chinokonzera imwe chromosome fragment.
Kubata kweKatiso Eye Syndrome
Cat eye syndrome inokanganisa vose varume nevakadzi uye inofungidzirwa kuti inowanikwa mune 1 mu 50,000 kusvika 1 mu 150 000 vanhu.
Kana iwe uine CES, iwe unowanzova iwe chete mumhuri yako kuti uve nemamiriro acho ezvinhu sezvo iri chromosomal isina kufanana nekupesana nejeni.
Zviratidzo zveKat Eye Syndrome
Kana iwe kana mwana wako ane CES, unogona kuwana zviratidzo zvakasiyana-siyana. Vanenge 80 muzana kusvika 99 muzana yevanhu vane cat eye syndrome vane zviratidzo zvitatu zvinotevera zvakafanana:
- Zvishoma zvishoma zveganda (mateti) emazwi ekunze
- Kusuruvara kweganda (masango) emakona ekunze
- Kusavapo kana kuvhiringidzwa kwe anus (anal atresia)
Zvimwe, zvakajairika, zviratidzo zveSchmid-Fraccaro syndrome zvinosanganisira:
- Kusavapo kwenyama kubva kune rumwe ruvara rwemaziso (iris coloboma)
- Congenital heart defects
- Ita kukanganisa
- Kuderera kunotsemuka mazaruriro pakati pemakona emazasi nepamusoro
- Zvikanganiso zvehutano hwekuvhenekera kana itsvo
- Short stature
- Cleft palate
- Maziso-akaisa maziso
- Kunetseka kwepfungwa
Kune mamwe maitiro asina kuberekwa asina kuberekwa, ayo akaonekwa sechikamu chemamiriro acho, zvakare.
Zvinokonzera Cat Eye Syndrome
Maererano neNational Organisation for Rare Disorders (NORD), chinonyatsokonzera cat eye syndrome haisi kunzwisiswa zvachose. Mune zvimwe zviitiko, chromosomal isingaoneki inoratidzika kuti inomuka zvisiri pamusana pechikanganiso chekuti mubereki wekuberekwa kwemasero akaparadzanisa sei. Muzviitiko izvi, mubereki wako ane chromosomes yakasarudzika.
Mune zvimwe zviitiko, zvinoratidzika zvichibva pakugoverana kwakakwana kune mumwe wevabereki vako.
Translocation inoitika apo zvikamu zveimwe chromosomes zvinopera uye zvinogadziriswa, zvichiita kuti kuchinja kwezvinhu zvemajeni uye kuchinja kwema chromosomes. Kana kugadziriswa kwechromosomal kuchienzaniswa-kureva kuti inoumbwa nesarudzo yakashandurwa asi yakanyatsogadzikana-inowanzoshaya chakaipa kumutakuri. Zvisinei, kana iwe uine CES, yako rechromosomal rearrangement inogona kuwedzera mungozi yako yekuderedza kukura kwako kwechirwere chromosomal kune vana vako.
Mune zvimwe zviitiko, mubereki wemwana akabatwa angave ane chromosome marker mune mamwe masero emuviri uye, pane dzimwe nguva, kuratidza zvimwe, zvichida zvinyoro, zvinokonzera chirwere. Uchapupu hunoratidza kuti ichi chromosomal chisina kunaka chinogona kutapudzwa kuburikidza nezvizvarwa zvakasiyana mune dzimwe mhuri; zvisinei, sezvakataurwa pamusoro apa, kutaura kwekubatanidzwa kunogona kushanduka. Somugumisiro, chete avo vane maitiro akawanda kana akaoma anogona kuonekwa.
Chromosomal analysis uye genetic counseling inogona kukurudzirwa kuvabereki vemwana akabatwa kubatsira kubatsira kana kusimbisa kuvepo kwezvimwe zvinhu zvisina kukodzera zvinosanganisira chromosome 22 uye kuongorora dambudziko rekudzoka zvakare.
Kuongorora uye Kuchengeta Cat Eye Syndrome
Kana uine cat eye syndrome, izvo zvinoreva kuti iwe wakaberekwa nawo. Kazhinji, chiremba wako achakuongorora iwe kana mwana wako zvichienderana nezviratidzo zvaunazvo. Kuenzanisa kwemajeni, yakadai sekaryotype, inogona kusimbisa kuvepo kwechiremera chinonzi genetic chirema mu chromosome 22-katatu kana katatu yezvikamu zvekromosome-iyo inosanganiswa neCES.
Kuti CES inobatwa sei inobva pane zviratidzo iwe kana mwana wako. Vamwe vana vangave vachida kuvhiyiwa kuti vagadzirise matambudziko ekuberekwa muinus kana moyo yavo. Vanhu vazhinji vane cat eye syndrome vane chiyero cheupenyu hunotarisirwa kunze kwekuti vane hupenyu hunotyisa matambudziko epanyama akadai sechirema chakakomba mwoyo.
> Sources:
> Dzimba uye Dareases Diseases Information Center. Cat Eye Syndrome. National Centre Yokufambisa Shanduro Sciences. Dhipatimendi reUnited Health Health and Human Services. National Institutes of Health. Yakapedzwa musi waApril 13, 2015.
> National Organisation for Rare Disorders (NORD). Cat Eye Syndrome. Yakabudiswa 2017.