Vakawanda vanozvarwa vacheche vane chirwere che chromosomal vane trisomy mosaic 9
Trisomy 9 isingawanzoitiki uye inowanzofa inouraya chromosomal isina kuitika inowanikwa anenge anenge 2.5 muzana yekubvisa pamuviri kamwechete-kubvisa pamuviri kunotangira mushure memakore makumi maviri ekuberekwa.
Zvakafanana neTrisomy 21 (inozivikanwawo seArt syndrome), trisomy 9 inowanikwa kana pane makopi matatu echromosome 9 ari mumasero emwana, asi anopesana nemakopi maviri.
Kusiyana ne-trisomy 21, kunyange zvakadaro, trisomy 9 inobatana, inotungamirira kukuratidzwa kwakanyanya, uye ine mukana wakadzika wekupona.
Ndeapi marudzi eTrisomy 9?
Kune zvitatu zve trisomy 9:
- Trisomi yakakwana 9: Zvose masero ari mumuviri wemwana uye placenta ane makopi matatu echromosome 9.
- Chikamu chetrisomi 9: Pane zvikamu zviviri zvakazara zvechitanhatu che chromosome pamwe nekopi yekodhiyo yepakati.
- Mosaic trisomy 9: Trisomy inowanikwa mune mamwe masero emumuviri apo mamwe masero ane maitiro ezvakagadzirwa nema chromosomes.
Trisomi yakakwana 9 inowanzoda kuuraya, uye vazhinji vanofa mukutanga kwekutanga. Kunyange zvazvo vazhinji vevana vakaberekerwa vachiberekwa vane trisomy mosaic 9, vazhinji vanofa mucheche nekuda kwehutano hwehutano hunokonzerwa nechirwere. Izvo zvinotaurwa, pane vamwe vanopona kupfuura gore rokutanga rehupenyu.
Chikamu chetrisomi 9 chisingabatanidzi chinogona kusanganisa tarisiro yehupenyu hwemwana, asi vana vakagadzikana vanogona kunge vane hutano hwakasiyana hwehutano uye hunobudirira.
Ndezvipi zviratidzo kana zviratidzo zveTrisomy 9?
Zviratidzo nezviratidzo zvinowanikwa mu trisomy 9 zvakasiyana. Tsanangudzo dzakajairika pane ultrasound dzinosanganisira fetal heart defects uye uropi uye musipinha tsvina.
Zvimwe zvinogona zviratidzo uye zviratidzo zvine chokuita neTrisomy 9 zvinowanzobatanidza:
- chimiro chechimiro chechimiro (mutsara muduku, mazamu akavhara nebandauriri, chidimbu uye / kana marate, tambo tuduku, nzeve dzakadzika, maziso maduku uye / kana mapepa eheyi anokwira kumusoro
- matambudziko maonero
- akaparadzanisa joints
- mazino asina kusimba
- miedzo isina kufanirwa muvana vevana
- inso cysts
- kudya uye kufema zvinetso mushure mekuberekwa
- kukundikana kubudirira
- short stature
- matambudziko maonero
- kukanganisa kusanzwisiswa kwekuremara nekukurumidza kunonoka
Chii Chinowedzera Mukadzi Akakwanisa Kuva necheche neTrisomy 9?
Vatsvakurudzi havana kuziva chero njodzi dzinokonzera trisomy 9, kunze kwekunge kune kubatana nezera remakore rakapfuura, sa trisomy 21. Kana zvisina kudaro, mamiriro ezvinhu anoita seanoitika pasina. Chero bedzi ndechokuti kana mubereki ane mamiriro ezvinhu anozivikanwa sekuenzanisa kwemasimba anokonzera kromosome 9, iyo inogona kuwedzera mukana wekuva nemwana ane trisomy isina kukwana 9. Zvisinei, trisomy isina kukwana 9 haina kuwanzana, ichienzaniswa nemamwe marudzi.
Trisomy 9 Inowanikwa sei?
Trisomy 9 inogona kuongororwa mushure mekumuka kwepamuviri. Zvinogonawo kugamuchira kurapwa panguva yekuzvitakura nechorionic villus sampling ( CVS ) kana amniocentesis . Nezvivara zvepaCVS kana kuti fetal cells kubva kune amniocentesis, vanachiremba vanogona kuraira karyotype, iyo mufananidzo we chromosome yomwana. Dzimwe nguva kuongororwa hakugadzirwe kusvikira mwana aberekwa, uye karyotype inorayirwa kuti isimbiswe.
Shoko Rinobva Kunyanya
Zvinotyisa uye zvinokanganisa kuudzwa mwana wako ane chirwere chemazwi, pasinei nokuti mamiriro acho akaoma sei. Kana iwe ukanganisa mwana ane trisomy 9, unofanirwa kuziva kuti kubvisa pamuviri kwakanga kusiri iwe mhosva yako, uye maitiro acho akaderera kuti mimba yako inotevera ichabatwa. Zvinosuruvarisa, kushungurudzika kwetrisomy ndeimwe yezvinhu izvo zvinoitika dzimwe nguva.
Kana iwe zvino uri pamuviri uye kuongororwa kwepabonde kwakawanikwa trisomy 9, zvakakosha kutaura nemunhu ane ruzivo rwema genetic kana geneticist. Hakuchina mushonga weTrisomy 9, uye kurapwa kunoenderana nezviratidzo zvevana zvakasiyana nezviratidzo.
> Sources:
> Miryounesi M, Dianatpour M, Shadmani Z, Ghafouri-Fard S. Nyaya yemhosva ne trisomy 9 mosaicism. Iran J Med Sci . 2016 May; 41 (3): 249-52.
> NIH. Genetic uye Rare Diseases Information Center. (2015). Mosaic trisomy 9.
> Schwendenmann WD et al. Sonographic inowanikwa mu trisomy 9. J Ultrasound Med . 2009 Jan; 28 (1): 39-42.
> Zen PR, Rosa RF, Rosa RC, Graziadio C, Paskulin GA. Mushumo mutsva wevarwere vaviri vane trisomy mosaic 9 inopa zvinhu zvisingawanzovi uye kupona kwenguva refu. Sao Paulo Med J. 2011 Dec; 129 (6): 428-32.