Trisomy 16 uye Mosaic Trisomy 16 muKubata
Kana iwe wakadzidza kuti mwana wawakabvambisa wakanga ane trisomy 16, kana iwe uri kudzidza nezvebasa kana chromosome isina kukanganisa mukuparara, iwe unoda kuziva chii?
Kana, pane kudaro, wakadzidza kuti mwana wako angave ane trisomy mosaic 16 mushure mekunyorwa kwechirionic villus, amniocentesis, kana karyotype yakaitwa mushure mokuberekwa, chii chaunoda kuziva? Chii chinoitika mberi uye izvi zvinorevei pamusoro penguva refu?
Chromosomal Kusagadzikana Mukusununguka
Chromosomal disorders ndiyo inonyanyokonzera yekutanga-trimester miscarriages , uye kuongororwa kwematambudziko aya ari kukonzera 50 kusvika 75 muzana yezvose zvinokanganisa. Matambudziko, uyewo, ndiyo inowanikwa yakawanda inowanikwa nekromosome mushure mekutsvaga mushure mokunge apera.
- Kunzwisisa Genesisi, DNA, uye Chromosomes
Trisomy 16 muKushandura
Pamusoro pematambudziko ose (akakurukurwa pasi apa), trisomy 16 inoratidzika kuva yakanyanya kunyanya, inowanikwa munenge imwechete yezana yezvose zvinenge zvichitakura. uye kubhadhara kwepamativi 10 kubva muzana yekutapudza. Kune marudzi akasiyana eatrisomy 16; nemhando imwe yakange isingaenderani nehupenyu apo imwe inogona kukonzera mwana ane utano dzimwe nguva. Tichazotaura pamusoro pemhando dzakasiyana asi pakutanga, tinofanira kutsanangura zvinorehwa ne trisomy.
Chii chinonzi Trisyumu uye Inobata Sei? -
Kazhinji, vanhu vane ma chromosomes makumi mana nematanhatu, ayo akabatanidzwa pamwe chete mumapoka 23.
Imwe yakagadzirwa nema 23 chromosomes inobva kuna amai uye imwe yakagadzirirwa kubva kuna baba. Maviri maviri (44) emakromosomes anonzi "autosomes" uye mamwe maviri ari "chromosomes zvepabonde." Vakadzi kazhinji vane karyotype ye 46 XX nevarume, 46 XY.
Apo masero akaparadzanisa kuumba mazai nemumushoni muchigadzirwa chinonzi meiosis, kopi imwe yekromosome imwe inoenda kune imwe yamazai maviri kana mbeu mbiri.
Dzimwe nguva kukanganisa kunowanikwa, uye ma chromosomes maviri anoenda kune rimwe dza kana sharu uye hapana kune mumwe.
Apo chirume nehai zvino zvinosanganiswa (panguva yekudyisa) zygote ichaguma pamwe chete nekromosome yakawedzerwa (trisomy) kana kuti inoshaya chromosome (monosomy).
Trisomy inogona kuitika mushure mokunge uchinge uchinge waita. Pamberi pemakakatanwa, masero akawedzera ma kromosomes awo saka ane 92. Apo sero rinoparadzanisa, mwanasikana mumwe nomumwe anenge ane kromosomes 46. Kana kukanganisa kunoitika, imwe sero inogona kuguma ine 47 chromosomes uye imwe ine 45.
Mhando dzeTrisomy 16
Kune matatu emhando ye trisomy: yakazara, yakasarura, uye yepamusoro.
Trisomy yakakwana 16 - Trisomy yakakwana 16 inoreva kuti masero ose ari mumuviri wemwana anokanganisa. Trisomi yakakwana 16 haikwirirani nehupenyu uye inenge ipo vose vana vane chirwere chisina kukanganisa mumatatu ekutanga.
Mosaic trisomy 16 - Zvinokwanisika kuva netrisomy trisomy 16, zvinoreva kuti mamwe masero emumuviri anokanganiswa apo mamwe masero ari akajairika. Mosaic trisomy 16 inogona kuitika kubva ku trisomy iri kuedza kururamisa pachayo panguva yechipinda chekuparadzanisa pamusana pekukura kwekubata, zvichisiya mamwe masero akanganiswa asi kwete vamwe. Mosaicism inowanzoratidzwa se peresenti.
Chikamu chine rusarura trisomi 16 - Zvinogonawo, mune zvisingawanzoitika, kuva nepamuviri umo masero anocheka ane trisomy yakakwana 16 kana trisomy ya mosai 16 kunyange zvazvo mwana ari chromosomally akajairika.
Izvi zvinozivikanwa se "trisomy" isina kukwana 16.
Kunzwisisa Karyotypes neTrisomy 16
A karyotype yakakwana yakanyorwa sa 46 XX kana 46 XY, ine trisomy iri 47 XX kana 47 XY.
Trisomy 16, yakanyorwa sa 47 XX +16 yemusikana, kana 47 XY +16 yemukomana (ane +16 inoratidza kuti trisomy inosanganisira chromosome yechi16.)
Mosaic trisomy inogona kunyorwa seperesenti, somuenzaniso nemukomana ingangodaro yakanyorwa 47 XY +21/46 XY neperesenti yakapiwa semasero akawanda ari 47 XY +16 uye nhamba iri 46 XY.
Kuongororwa kweTrisomy 16
Kuonekwa kwetrisomy 16 kunogona kuitika mushure mekuparara pamuviri, kana kusiyana, kunogona kuwanikwa panguva yekuzvitakura semugumisiro wokuedzwa kwepabonde.
Trisomy yakakwana 16 inogona kuonekwa sechikonzero chekusununguka kwepabonde kana vabereki vakawana mishonga uye kuongororwa kwechromosomal kusagadzikana mukupererwa kwemaviri kunoitwa.
Trisomy 16 kana trisomy ya mosai 16 inogona kuonekwawo panguva yekuzvitakura kuburikidza ne chorionic villus sampling ( CVS ) kana amniocentesis .
Icho chiitiko cheTrisomy 16 Kuongororwa Mushure mekudzingwa kunoreva iwe
Trisomy yakakwana 16 inowanzotora mhedzisiro yekutanga-trimester kutapudza. Kana wakamboudzwa kuti trisomy 16 ndiyo yakakonzera kupererwa kwako, iwe unofanirwa kuziva kuti kubvisa pamuviri kwakanga kusiri iwe mhosva yako uye mikana yekupererwa pamuviri mumimba inotevera inenge yakaderera. Kusvika kuzana nezana makumi mashanu evakadzi vane chirwere chekutanga chetatu vanopedzisira vava nepamuviri chaiyo panguva inotevera apo vanova nepamuviri.
Trisomy 16 Kuongororwa Akaitwa Panguva yeCVS kana Amniocentesis
Kana iwe ikozvino uri nepamuviri uye wakagamuchira CVS kana amniocentesis migumisiro inoratidza masero anokonzerwa neTrisomy 16, zvinowanzoitika kuti utye kana kuvhiringidzwa. Iwe unofanirwa kuziva, zvisinei, kuti hazvigoneki kuti mwana ane trisomy yakakwana 16 kana kutora kwako kwafambira mberi kwepakutanga kwetatu-mwana angave ane trisomy mosai 16 kana kuti trisomy inogona kuvharirwa kumapapiro.
Mosaic Trisomy 16 Panguva yekudzivirira
Kutakura mwana ane trisomy ya mosai 16 inotakura ngozi yakawedzerwa yezvinetso, uye zvakakosha kuona chiremba wezvipembenene anonyanya kutakura pamuviri wekutengesa kunobatsira kutarisa kubata kwako. Kuberekwa ne trisomy 16 kunotakura zvakanyanya kudarika kuwanda kwezviitiko zve:
- Intrauterine kukura kunonoka
- Kubata kunokonzerwa nehutachiona (preeclampsia kana toxemia)
- C-chikamu kuburitsa
- Neonatal intensive care unit kubvuma mushure mokuberekwa
Congenital Anomalies mucheche neMoisic Trisomy 16 kana Mucheto Trisomy 16
Hapana hutsvakurudzo hwakawanda pamusoro pemigumisiro yeeticular trisomy 16 kana trisomy 16 ye placenta (trisomy isina kukwana 16), asi tsvakurudzo inowanikwa inoratidza kuti vana vakagadzikana kazhinji havatambudzi nematambudziko makuru.
Pakati pevana vanoberekwa ne trisomy 16, zvinetso zveutano zvinogona kusiyana zvakasiyana zvichienderana nehuwandu hwekunyora. Dzimwe nguva vana vanozvarwa vasina uchapupu hwekusava nehumwe apo vamwe vanogona kuva nehutano hwezvinetso zvehutano. Zvinenge makumi matanhatu kubva muzana zvevana ava vachava nehumwe humwe humwe hutano hwekusangana hunogona kusanganisira:
- Chiremera chemoyo (congenital heart disease) - Ventricular septal defect inowanikwa munharaunda inenge 17 muzana yeava vana uye atrial septal defect (ASD) inenge inenge 10 muzana.
- Hypospadias - Hypospadias ndiyo mamiriro ekuvhurwa kwechiremera chechiremera hachisi pamucheto wepenisheni asi pane imwe nzvimbo mumumvuri.
- Kusviba kwepiso zvakadai semutsipa mutsvuku, hupamusoro pehuma, uye / kana mhete yakananga.
- Kuporesa kusakanganiswa kwakadai sediki (hypoplastic) mapapu.
- Musculoskeletal kusagadzikana zvakadai sa scoliosis.
- Kukanganisa kwepfungwa kana kukurumidza kunonoka, asi izvi zvinoratidzika sezvimwe chete.
Migumisiro Yenguva Yakareba yevana neMosic Trisomy 16
Pasinei nezvinetso zvepamuviri uye kukanganisa kwepenital anomalies inosvika 60 muzana, gore ra2017 rakaratidza ruzivo rwehutano hwehutano hwenguva refu yevana vane trisomy ya mosaic 16. Nevana vechikoro vane makore vane trisomy 16, 80 muzana vakakwanisa kuenda kudzikoro dzakawanda . Zvidzidzo zvakatarisa utano hwepanyama, hutano hwepfungwa, uye hupenyu hwehupenyu hwaive hukurudzira zvikuru, zvichiratidza kuti vazhinji vevana ava vakawana pakati pe80 ne90 pane imwe zana yepamusoro yehutano hwakanaka hwehupenyu.
Kutungamirirwa Kwekuberekwa neMosic Trisomy 16
Sezvambotaurwa pamusoro apa, kune huwandu hwehutano hwepamuviri hunowanzobatwa necheche ane trisomy 16. Kusangana nechirwere chinonzi perinatologist kana chiremba wezvokurapa anonyanya kutakura pamuviri wekutengesa kunokosha.
Kudzidza pamusoro pemamiriro acho ezvinhu kunogona kukubatsira kugadzirira, kunyanya kudzidza kuti vazhinji vevana vanoberekwa ne-trisomy mosaic 16 vanoenderera mberi kuva nehutano hwakanaka mumuviri sezvavanokura.
Kuona nyanzvi yezvehutano hwepfungwa iyo inozivikanwa nekromosomal kusakanganisika inogona kubatsira zvikuru zvakare, zvose kusimbisa chokwadi chokuti hapana chawakaita chakaita kuti chiitiko chacho, uye kukubatsira iwe kugadzirisa kuva nemwana angave ane zvimwe zvisiri izvo.
Kudzidza Pamusoro peTrisomy 16 uye Kupa mazano weGenetic Mushure mekusara
Pasinei nedzipi zvidzidzo kana huporofita, zvinowanzogumbura uye kuva nemibvunzo kana kuenzanidza kunoratidza kuti pane zvinetso nevana vako. Kana iwe wakadzidza kuti mwana wawakabvambisa asina trisomy 16, mazano ekuberekorora anogona kubatsira zvikuru. Kungofanana nekutakura vana vane trisomy mosaic 16 ndeyekusarura, kuva nechepamuviri yakabatana ne trisomy 16 mu fetus haisi chinhu chawakakonzera.
Zvimwe Zvinyorwa zvevanhu
Kune zvakawanda zvakasiyana-siyana zvevanhu, zvimwe zvisingabvumirano nehupenyu uye zvimwe zviripo. Zvichida zvakanyanya kuzivikanwa ndeye Down syndrome (trisomy 21). Sezvakaita trisomy 16, huwandu hwematambudziko aya ndeezviitiko zvisina kukanganisa uye hazvibviri kuitika zvakare munguva yekusununguka.
Pasi Pano paTrisomy 16, Kuparadzaniswa, uye Kuberekwa
Ne trisomy yakakwana 16, kupererwa kwepamuviri kunowanzoitika munguva yekutanga chegumi, uye chiitiko chinenge chisingawirirani nehupenyu. Kunyange zvazvo kudzidza pamusoro peizvi kuongororwa kunoshungurudza, zvinogona kuvimbisa vamwe vabereki kuti vaone kuti hapana chavakaita kuti vaite chirwere chacho, uye mukana wokuva neTrisomy 16 mune imwe mimba isingawanzoitiki.
Ne mosaic trisomy 16, nhau dzinoratidzika kuva dzakakurudzira kupfuura kufunga munguva yakapfuura. Ikoko kunoratidzika kunge kune huwandu hwekuita pamuviri nemucheche ane trisomy 16, uye kune huwandu hwakawanda hwekuberekwa kusina kunaka, asi kwenguva refu, muviri, unyanzvi, uye hutano hwehutano hwevana ava kazhinji zvakanaka.
Sources
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- Chareonsirisuthigul, T., Worawishawong, S., Parinayok, R., Promosonthi, P. na B. Rerkamnuaychoke. Intrauterine Kukura Kunonoka neTrisomy 16 Mosaicism. Case Reports in Genetics . 2014. 2014: 739513.
- Kliegman, Robert M., Bonita Stanton, St Geme III Joseph W., Nina Felice. Schor, Richard E. Behrman, uye Waldo E. Nelson. Nelson Nhamba yeBhuku rePediatrics. 20th Edition. Philadelphia, PA: Elsevier, 2015. Print.
- Anopisa, T., Thao, K., uye M. Norton. Mosaic Trisomy 16: Ndezvipi Zvibereko zveUbondetric uye Zvenguva Yakareba Kwevana? . Genetics in Medicine . 2017 Apr 6. (Epub pamberi pekudhinda).
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- US National Library of Medicine. Genetics Home Reference. Chromosome 16. Mharidzo 0404/17.