Tetra-amelia syndrome yog ib qho ntawm cov kab mob tsis tshua muaj caj ces cuam tshuam nrog kev hloov pauv ntawm WMT3 noob. Cov tsos mob tseem ceeb ntawm tus kab mob yog qhov ua tsis tiav ntawm tag nrho plaub ceg ceg ntawm tus neeg. Muaj lwm yam malformations loj. Koj tuaj yeem pom daim duab ntawm tetra-amelia syndrome hauv qab no.
cov ntaub ntawv dav dav
Ntxiv rau qhov tsis muaj plaub ceg ceg (Greek "tetra" - plaub, "amelia" - ceg tawv), nrog tetraamelia syndrome, malformations ntawm pob txha, taub hau, plawv, ntsws thiab genitourinary system tau pom. Qee zaum, muaj microphthalmia, cataracts, hypoplasia lossis aplasia ntawm lub ntsws, pob ntseg qis, cleft palate, lossis cleft di ncauj. Feem ntau cov menyuam yaus uas muaj tus mob tetra-amelia muaj qhov ua rau lub neej tsis zoo. Embryos nrog cov kab mob no feem ntau tuag hauv plab lossis tuag thaum thawj hnub ntawm lub neej.
Tetra-amelia syndrome muaj cov tsos mob zoo sib xws rau lwm yam kab mob uas tsis tshua muaj caj ces, Roberts syndrome. Tus kab mob no yog tus cwj pwm los ntawm kev ua haujlwm tsis zoo ntawm ceg ceg, qhov tsis xws luagsab hauv nruab nrog cev, tshwj xeeb tshaj yog lub plawv thiab ob lub raum, cleft palate. Roberts syndrome yog tshwm sim los ntawm kev hloov pauv hauv ESCO2 noob nyob rau ntawm 8th chromosome. Zoo li tetra-amelia syndrome, tus kab mob no tau txais los ntawm autosomal recessive yam. Kev kuaj mob kom raug tsuas yog ua nrog kev kuaj caj ces.
noob caj noob ces
Tus mob no tshwm sim los ntawm kev hloov pauv ntawm WNT3 noob nyob rau ntawm q caj npab ntawm 17th chromosome. WNT3 noob encodes cov protein uas koom nrog hauv kev tsim cov ceg ntawm tus menyuam hauv plab ua ntej yug thiab yog lub luag haujlwm rau kev tsim cov pob txha. Kev hloov pauv hauv cov noob no (kev rho tawm lossis theej tawm) yog qhov ua rau tetra-amelia syndrome.
Kev tshawb fawb hauv tsev neeg qhia tias tus mob no tau txais txiaj ntsig los ntawm autosomal recessive yam. Ntawd yog, tus menyuam tuaj yeem yug los nrog cov kab mob zoo li no tsuas yog tias ob leeg niam txiv yog tus nqa ntawm WNT3 noob mutant. Yog tias tsuas yog ib tus niam txiv muaj cov noob tsis zoo, ces tus menyuam yuav noj qab nyob zoo lossis yuav ua tus kabmob. Hauv cov neeg nqa khoom, cov noob hloov pauv ntawm ib qho ntawm cov chromosomes yog them los ntawm cov noob noj qab haus huv ntawm cov chromosome homologous uas encodes cov protein WNT3 li qub, yog li tetra-amelia syndrome tsis tshwm sim hauv cov neeg nqa khoom. Yog tias ob leeg niam txiv muaj tus kabmob, qhov tshwm sim ntawm tus menyuam muaj mob yog 25%.
Kev kho mob
Tam sim no tsis muaj kev kho rau tetra-amelia syndrome, zoo li feem ntau lwm yam kab mob caj ces.
Yav tom ntej, kev kho noob nyob rau theem pib ntawm kev loj hlob ntawm fetus yuav ua rau nws muaj peev xwm hloov pauv WNT3 noob nrog17th chromosome yog qhov qub, uas yuav pab kom zam dhau kev txhim kho ntawm tetra-amelia syndrome, tab sis tam sim no qhov kev ua haujlwm no yog nyob rau theem kev sim. Qhov tshwm sim tsawg heev ntawm tus kab mob ua rau nws nyuaj rau nrhiav kev kho mob.
Kab mob kis
Tetra-amelia syndrome yog tsawg dua li lwm yam kab mob caj ces. Qhov tseeb zaus ntawm tus kab mob tsis tau tsim. Raws li qee qhov kev tshaj tawm, tam sim no tsuas muaj xya tus neeg muaj tus kabmob no hauv ntiaj teb.
Diagnosis
Tus mob tetra-amelia tuaj yeem txiav txim siab hauv tus menyuam hauv plab los ntawm cov txheej txheem kho mob xws li kev tshuaj xyuas qhov sib lawv liag ntawm thaj tsam encoded ntawm chromosome, kev tshuaj xyuas ntawm deletions thiab duplications ntawm chromosome 17. Cov kev ntsuam xyuas no qhia seb puas muaj kev tshem tawm ntawm chromosome (tsis muaj cov noob caj noob ces lossis cov noob caj noob ces tag) lossis rov ua dua ntxiv ntawm trinucleotides. Cov kev sim no yog qhov tshwj xeeb tshaj yog tias tsev neeg twb tau muaj tus mob ntawm tus menyuam yug los nrog tetra-amelia syndrome.
Tam sim no hauv thawj peb lub hlis twg ntawm cev xeeb tub, lub tshuab kho mob ultrasound siab yuav yooj yim txiav txim siab qhov tsis tuaj yeem ntawm tus menyuam hauv plab. Cov txheej txheem xws li amniocentesis thiab chorionic biopsy kuj tuaj yeem kuaj pom muaj lossis tsis muaj kev hloov pauv, tab sis lawv kuaj pom tus kab mob tom qab ultrasound.
Nrog cov khoom tsim tawm, kev kuaj ntshav ua ntej cog qoob loo tuaj yeem ua tau. Cov txheej txheem no yuav tso cai rau koj los txiav txim seb lub embryos twg muaj cov noob hloov pauv thiab qhov twg tsis ua, thiab xaivtsuas yog noj qab nyob zoo xwb. Txoj kev kuaj mob no ua tau zoo heev thaum nws los txog rau ntau yam kab mob caj ces, tsis yog tetra-amelia syndrome xwb, thiab txo qis kev pheej hmoo ntawm kev muaj menyuam uas muaj caj ces txawv txav.
Huab cua
Cov neeg muaj tetra-amelia syndrome kawm ua lub neej ua kom tiav. Nws tsis tuaj yeem hais meej meej li cas tetraamelia cuam tshuam rau lub neej expectancy. Nws tag nrho yog nyob ntawm qhov hnyav ntawm concomitant malformations ntawm lub cev pob txha, lub plawv, ntsws, hlab ntsha.
Raws li twb tau hais lawm, ib qho ntawm cov kab mob tsis tshua muaj tshwm sim ntawm txhua qhov ua tau - tetra-amelia syndrome. Muaj pes tsawg tus neeg hauv ntiaj teb raug kev txom nyem los ntawm nws? Raws li qee cov lus ceeb toom, tsuas yog xya tus neeg tam sim no nyob nrog tus kab mob no. Cov neeg nto moo tshaj plaws uas muaj tetra-amelia syndrome yog Asmeskas cov neeg hais lus txhawb siab thiab sau ntawv Nicholas Vujicic, tus neeg sau xov xwm kis las Nyij Pooj Hirotada Ototake, thiab Joanna O'Riordan.
