Lub npe scientific rau Treacher Collins syndrome yog dab tsi?
Lub npe scientific rau Treacher Collins syndrome yog dab tsi?
Anonim

Kev kuaj mob feem ntau xav tias yog raws cov tsos mob thiab X-duab tshav, thiab muaj peev xwm lees paub los ntawm kev tshuaj ntsuam genetic. Treacher Collins Syndrome yog kho tsis tau.

Treacher Collins Syndrome
Lwm yam npe Treacher Collins -Franceschetti tus mob , mandibulofacial dysostosis, Franceschetti-Zwalen-Klein tus mob

Kuj nug, dab tsi ua rau Treacher Collins?

Treacher Collins Syndrome (TCS) yog ua los ntawm kev hloov pauv (hloov pauv) hauv ib qho ntawm ob peb cov noob: TCOF1 (ntau dua 80% ntawm cov neeg mob), POLR1C, lossis POLR1D. Hauv ob peb kis, caj ces ua rau ntawm tus mob yog tsis paub. Cov noob no tshwm sim ua lub luag haujlwm tseem ceeb hauv kev loj hlob ntawm cov pob txha thiab lwm cov ntaub so ntswg ntawm lub ntsej muag.

Qhov thib ob, Treacher Collins syndrome puas yog kev tsis taus? Treacher Collins Syndrome yog caj ces tsis meej pem uas cuam tshuam kev loj hlob thiab kev loj hlob ntawm lub taub hau, ua rau lub ntsej muag tsis zoo thiab hnov lus tsis zoo. Feem ntau, tus menyuam txoj kev txawj ntse tsis muaj kev cuam tshuam.

Hais txog qhov no, dab tsi organelle ua rau Treacher Collins syndrome?

Thaum twg Treacher Collins Syndrome Cov txiaj ntsig tau los ntawm kev hloov pauv hauv TCOF1 lossis POLR1D noob, nws raug suav hais tias yog tus mob autosomal tseem ceeb, uas txhais tau hais tias ib daim qauv ntawm cov noob hloov pauv hauv txhua lub cell yog txaus rau ua rau cov tsis meej pem.

Treacher Collins NHS yog dab tsi?

Treacher Collins Syndrome yog lub npe muab rau kev yug me nyuam uas tuaj yeem cuam tshuam qhov loj thiab cov duab ntawm pob ntseg, daim tawv muag, pob txha ntawm lub puab tsaig, thiab lub puab tsaig sab sauv thiab sab qis. Lub ntsej muag deformity sib txawv ntawm ib tus neeg cuam tshuam rau lwm tus.

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