Translocation ya Robertsonian ndi Down Syndrome

Zotsatira za kusintha kumeneku zimadalira kapena ayi

Kusuntha kwa Robertsonian ndi chimodzi mwa mitundu iwiri ya kusintha kwa chromosomal. Kusunthika kumachitika pamene kachilombo ka chromosome kamatuluka ndikugwiritsanso wina chromosome. Chromosomes amafanana ndi kalata x. Mbali yaikulu ya chromosome imadziwika ngati mikono yayitali. Mikono yayitali imagwirizanitsidwa ndi theka la pansi, mikono yaitali, ndi centromere.

Mu translocation ya Robertsonian, mikono yayitali imathyoledwa ndipo mikono ikuluikulu ikuphatikizana pamodzi ndi centromere mpaka kumapeto.

Kusamuka kwa Robertsonian kungakhale koyenera kapena kosasamala. Kusinthana kwabwino kwa Robertsonian sikupereka zizindikiro, ndipo sikukhudza moyo. Anthu omwe ali ndi mtundu woterewu amatengedwa ngati ogulitsa. Zonyamulira za translocation za Robertson zili ndi ma chromosomes 45, mmalo mwazomwe zimakhala zachilendo 46. Anthu omwe ali ndi mawonekedwe osalongosoka angakhale ndi mavuto aakulu azaumoyo komanso nthawi yofupikitsa. Ngati chromosome ya nambala 21 ikukhudzidwa pakupanga translocation, izi zingayambitse Down syndrome .

Makina enaake a chromosome angapangitse kusintha kwa Robertsonian - chromosomes 13, 14, 15, 21, ndi 22.

Zimayambitsa

Nthaŵi zambiri, kusintha kwa Robertsonian kumachitika mwadzidzidzi. Kusunthira kumachitika pamene umuna ndi mazira (makamaka mazira) amapanga. Palibe chimene munachita kuti chikhalepo ndipo palibe chimene mungachite kuti muteteze.

Munthu mmodzi mwa anthu 1,000 amabadwa ndi kusintha kwa Robertsonian.

N'chiyani Chimachitika Ngati Ndili Wothandizira?

Ngati muli chonyamulira, mosakayikira simudzazindikira zizindikiro zonse mpaka mutayesa kutenga mimba. Amuna omwe amanyamula njira yolimbitsa thupi ya Roberts amakhala ochepa kwambiri. Zinyamuliro zimakhalanso ndi chiopsezo chowonjezeka chokhudzidwa ndi mimba.

Anthu omwe ali ndi mikono ikuluikulu ya chromosome yomweyi - 13:13, 14, 14, 15; 15, 21; 21, ndi 22; 22 - idzatulutsa umuna ndi mazira ndi ma chromosome osagwiritsidwa ntchito, zomwe zimapangitsa kuti zikhale zosatheka nthawi zonse mimba kuti ichitike.

Kwa othandizira ena onse, pali zotsatira zinayi zomwe zingatheke kutenga mimba:

1. Mimba ndi mwana ndizochibadwa. Mimba imatengedwa kufika nthawi ndipo mwana amabadwa ndi ma chromosome 46.
2. Mimba ndi yachibadwa koma mwanayo amakhala ndi kayendedwe kabwino ka Robertsonian. Pachifukwa ichi, mwana (monga kholo lawo) amanyamula translocation ndipo alibe zolephereka za thanzi kapena chitukuko.
3. Mwanayo amabadwa ndi matenda a chromosome. Nthaŵi zambiri, makanda amabadwa ndi matenda a translocation.
4. Mimba imabweretsa kuperewera kwa pathupi kapena kusapangidwa kwathunthu. Ngati umuna kapena dzira lilibe ma chromosomes oyenerera, kutenga mimba sikungapangidwe bwino, kutayika, kapena kubweretsa chiberekero.

Ngati mutengeretsa Robertsonian ndikuyesa kutenga mimba, lankhulani ndi aphungu kuti mudziwe zambiri za zoopsa zanu, makamaka.

Kusintha kwabwino kwa Robertsonian

Kusuntha kwa Robertsonian kungapangitse kulemala kwa thanzi ndi chitukuko ngati sikuli bwino.

Mtundu wambiri wosasinthika wa translocation ndikutumiza matenda a Down syndrome. Matenda a Translocation Down amachititsa zizindikiro zomwezo komanso maonekedwe a matenda a Down syndrome. Mu mtundu wa translocation wa Down syndrome, mwanayo ali ndi makope atatu a mkono wautali wa chromosome 21 m'malo mwa awiri. Ana ambiri omwe ali ndi matendawa oterewa amabadwira makolo achibadwa. Komabe, othandizira oyenerera akhoza, mocheperapo, amakhala ndi ana omwe ali ndi matenda oterewa.

Zina zosagwirizana bwino za Robertsonian zimaphatikizapo translocation trisomy 13, yomwe imayambitsa matenda a Patau; matenda osagwirizana ndi makolo, omwe amachititsa kuti chromosome iyesere kudzikonza yokha; anakonza chromosome 14, zomwe zingayambe kuchepetsa kukula; ndipo anakonza chromosome 15, yomwe ingayambitse zizindikiro zofanana ndi Prader-Willi matenda kapena Angelman syndrome.

_Chitsime:

_{KawirikawiriChromo. Translocation ya Robertsonian (2005).}

_{MedicineNet. Tanthauzo la Translocation ya Robertsonian. (2012).}