Down syndrome ndiyo yakakurumbira yakawanda yechromosome inoberekwa nevanhu, asi wakanga uchiziva here kuti inenge imwe yemapuruzomu makumi maviri nemaviri emakromosomes anogona kuitika trisomic fomu? Kunyange zvazvo chromosome chero ipi zvayo inogona kuitika muhutu hunotyisa, zvishomanana zviduku zvinowirirana nehupenyu.
Chromosomes uye Kuparadzana
Chromosomal anomalies inozivikanwa kuti ndiyo inonyanya kukonzera kukanganisa.
Zvinotendwa kuti zvinopfuura hafu yezvisikwa zvose zvinokanganisa zvinogona kukonzerwa nekromosomal kusagadzikana. Zvechokwadi, inenge 60 kubva muzana yeiyi inokonzerwa nematambudziko uye mamwe makumi maviri kubva muzana anowanikwa asina kukwanisa kromosome yepabonde. Chimwe chinetso chinowanzoitika chromosomal chinokonzera kupererwa pamuviri ndechekufamba kwenguva. Pakufamba katoriidy, fetus iri inogadziriswa yakazara yekromosomes. Kunyange zvazvo Down syndrome ndiyo inonzi trisomi inowanzoonekwa muvana vachangoberekwa, iyo inotakurawo ngozi yakawanda yokuenda pamuviri.
Trisomi 18 (Edwards syndrome)
Trisomy 18 inowanikwa munenge inenge 1 mu6 000 kuberekwa patsva. zvichiita kuti inenge kaviri yakazara kupfuura Down syndrome. Zviitiko zvakawanda zve trisomy 18 zvinokonzerwa nenhamba inowedzera 18 chromosome. Zvasara 5 kubva muzana zvinokonzerwa nekutumirwa kunosanganisira chromosome 18.
Zvinosuruvarisa, vana vane trisomy 18 vane zvirwere zvakakomba zvekuberekwa. Vazhinji vacheche vane trisomy 18 vachave nehutano hwemwoyo, uye vazhinji vanogona kunge vane mafungiro asina hanya, uye mapapu nemakumbo asina kukwana.
Nemhaka yekuremara kwekuberekwa kwepanyama, vana vakawanda vane trisomy 18 vachafa mumazuva ekutanga ehupenyu. Vacheche ivavo vanopona vanowedzera kukanganisa kwepfungwa. Vazhinji havapfuuri mberi kwemwedzi mishoma yekutanga yehupenyu, asi vamwe vana vanopona kusvikira vachiri kuyaruka.
Trisomi 13 (Patau syndrome)
Trisomy 13 (Patau syndrome) ndiyo yechitatu inowanzoshandiswa pakugadzira autosomal pakati pechecheche, inotevera Down syndrome (trisomy 21) uye Edwards syndrome (trisomy 18).
Zviitiko zvizhinji zvinokonzerwa neTrisomy yose 13 ine chikamu chiduku chetrisomi 13 ichikonzerwa nekushongedza uye kushandurwa .
Vana vane trisomy 13 vanogona kuva nemakumbo uye miromo, zvigunwe zvigunwe uye zvigunwe, zvisingagadzirwe uye zvichishandurudzwa nhengo dzomukati, hutano hwakakomba hwepfungwa, uye uropi hwakanyanya husina kunaka. Nemhaka yekuoma kwechiremera chemuviri wavo, vazhinji vevana vanoberekwa ne trisomy 13, vanofa mumwedzi wokutanga.
47, XXY Syndrome (Klinefelter syndrome)
Klinefelter syndrome, 47, XXY, kana kuti XXY syndrome, inokonzerwa nechimwe che X chromosome. Vanhu vakavhiringidzika vane ma X chromosomes uye imwe Y chromosome. Vanhu vazhinji havazivi kuti vane klinefelter syndrome sezvo kusiyana kwekuda kwekuwedzera kwekromosome yeC X haisi pachena uye kazhinji kunowanikwa kusingaoneki.
Dambudziko guru rinowanika muKlinefelter syndrome zvinyorwa zvishoma uye kuderedza kubereka. Zvimwe zvakasiyana-siyana zvepanyama uye maitiro zvakakurumbira; zvisinei, kuoma kwezviratidzo izvi kunogona kusiyana kubva kumunhu kusvika kune munhu.
47, xYarume varume
Vamwe vakomana vanoberekwa vane imwe Y chromosome uye vane 47, XYY karyotype. Kazhinji kacho, ichi chinyorwa chinowedzera yeY chromosome chinokonzera zvisingaiti zvisikwa zvisiri izvo kana matambudziko emishonga.
Vanhurume vane 47, XYY syndrome dzimwe nguva inogona kureba kupfuura kuenzanisa uye inogona kuva nehuwandu hwekudzidzira hurema uyewo kunonoka kutaura uye unyanzvi hwemutauro. Kukurumidza kunonoka uye zvinetso zvekuita zvinogona kuitika, asi hutano hunosiyana zvikuru pakati pevakomana nevarume vanobatwa. Varume vakawanda vane 47, XYY syndrome vane hutano hwakanaka hwekuita zvepabonde uye vanogona kubata pamuviri vana.
47, XXX (Triplo-X, Trisomy X, uye XXX Syndrome)
Vamwe vasikana vanoberekwa vane katatu syndrome. Triple X syndrome kazhinji haina maitiro akabatana nawo kana matambudziko emishonga. Chikamu chiduku chevakadzi vane chirwere ichi chinogona kunge chine misizhonga yokuenda kumwedzi pamwe nekuremara kwekudzidza, kunonoka kutaura, uye kukanganisa maitiro emutauro.
Zvisinei, vanhu vazhinji vane 47, XXX syndrome vane muviri wakakwana mupfungwa uye mupfungwa.
Zvimwe Zvimwe Zvichida Kukonzera Kusarudzwa
Trisomy 15. Trisomy 15 haina kuwanikwa. Kunyanya kuzvitakura ne trisomy 15 kunopera pakupererwa kwekutanga kwekutanga. Muchizvaro chave chichifambira mberi, fetus inowanzove isina kukanganisa kwechiso chavo uye chekuita, maoko nemakumbo, uye kukurumidza kukura. Trisomy 15 yakabatanidzwa kuna Prader-Willi syndrome .
Trisomy 16. Trisomy 16 ndiyo inowanzojairika yerosomi inonzi trisomy inowanikwa mukusavhiringidzika uye nhoroondo dzevanenge 15 muzana yekutanga kwemamiriyoni matatu ematokari. Mamwe fetus ane trisomy 16 yakarasika mukati memavhiki gumi nemaviri kunyange zvazvo zvikamu zviduku zvinogona kurasikirwa mumutatu wechipiri. Mamwe mashoma ane trisomy ya mosai 16 akapona kusvikira aberekwa. Zvizhinji zvevana ava vane kukura kwekukura, nyaya dzepfungwa, uye vanofa pakutanga kwechechecheche.
Trisomi 22. Ita trisomy 22 ndiyo yechipiri inowanzokonzera chromosomal chinokonzera kupererwa. Kuponesa kunze kwekutanga kwekutanga kwekuita pamuviri hakuwanzoitiki. Trisomi yakakwana 22 haina kuwanikwa. Vabereki vakawanda vane trisomi yakakwana 22 vanofa vasati vaberekwa kana nguva pfupi mushure mekuberekwa nekuda kwekuremara kwakakomba kwakanyanya.
> Sources:
> Hay, William W., Deterding, Robin R., Levin, Myron J., Sondheimer, Judith M., Iye zvino Pediatric Diagnosis & Treatment, The McGraw-Hill Companies, Inc. Chikwata chegumi nemasere. 2007.
> Nelson-Anderson, D., Mvura, C., Genetic Connection Nhungamiro Yekunyora Yenyu Yenyu neMhuri Yehupenyu Hwekare > Sonters > Publishing, 1995.