Kuv nkag siab tias koj yuav tu siab, xav tsis thoob, thiab tsis muaj zog npaum li cas thaum koj pom tias koj tus menyuam muaj tus mob tsis tshua muaj hu ua Wolf-Hirschhorn syndrome. Tej zaum koj yuav muaj ntau lo lus nug hauv koj lub siab, xws li, 'Vim li cas qhov no thiaj tshwm sim rau kuv tus menyuam?', 'Qhov no tshwm sim li cas?', 'Kuv yuav ua li cas tam sim no?' Tsis txhob xav tias koj nyob ib leeg lub sijhawm no. Cia peb tham txog txhua yam kom meej thiab yooj yim.
Dab tsi yog Wolf-Hirschhorn Syndrome tiag tiag?
Hais yooj yim xwb, tus mob Wolf-Hirschhorn syndrome yog ib yam mob caj ces tsis tshua muaj uas ib tug menyuam yug los muaj. Nws tseem hu ua '(4p- syndrome)'. Peb lub cev cov hlwb muaj ib yam hu ua chromosomes . Xav txog cov no ua cov phau ntawv uas muaj cov qauv tiav rau peb lub cev yuav tsum tau tsim li cas. Muaj 46 ntawm cov chromosomes no, ua 23 khub.
Hauv tus mob Wolf-Hirschhorn syndrome, ib daim me me ntawm chromosome 4 ploj lawm. Nws zoo li ib daim me me ntawm ib nplooj ntawv hauv phau ntawv npaj uas raug rhuav tawm ntawm lub ces kaum. Txawm tias ib daim me me ntawm chromosome tuaj yeem cuam tshuam tus menyuam txoj kev loj hlob ib txwm. Qhov xwm txheej thiab qhov hnyav ntawm cov tsos mob sib txawv ntawm ib tus menyuam mus rau ib tus menyuam, nyob ntawm qhov loj ntawm daim uas ploj lawm.
Qhov teeb meem no yog vim li cas? Qhov no puas yog niam txiv lub txim?
Qhov no yog ib lo lus nug uas ntau tus niam txiv nug. Qhov tseem ceeb tshaj plaws uas koj yuav tsum nkag siab meej ntawm no yog tias feem ntau, qhov no tsis yog ib yam dab tsi los ntawm niam txiv, thiab nws tsis yog ib yam dab tsi uas niam txiv muaj qhov txhaum.
Qhov kev tawg ntawm cov chromosome no feem ntau tshwm sim ua ib qho xwm txheej random thaum lub sijhawm faib cell tom qab tus menyuam yug hauv plab. Cov kws kho mob tseem tsis tau paub meej tias vim li cas qhov kev hloov pauv caj ces tam sim ntawd tshwm sim.
Txawm li cas los xij, muaj tej yam tsawg tsawg heev uas tus mob no yuav tau txais los ntawm ib tug niam txiv. Qhov no hu ua 'balanced translocation' . Qhov no txhais tau tias ob lossis ntau dua chromosomes hauv leej niam lossis leej txiv tau tawg thiab hloov chaw thaum lawv loj hlob. Tab sis vim nws sib npaug, leej niam lossis leej txiv tsis muaj tsos mob dab tsi. Txawm li cas los xij, thaum ib tug neeg zoo li no muaj ib tug menyuam, muaj feem ntau uas cov chromosome tsis sib npaug yuav raug xa mus rau tus menyuam. Yog tias koj xav tau, koj tuaj yeem kuaj xyuas caj ces kom pom tias koj lossis koj tus khub puas muaj tus mob 'balanced translocation'. Tham nrog koj tus kws kho mob kom paub ntau ntxiv txog qhov no.
Cov tsos mob uas pom tau hauv ib tug menyuam yog dab tsi?
Tus mob Wolf-Hirschhorn syndrome muaj peev xwm cuam tshuam rau ntau qhov ntawm lub cev. Qhov no yog vim li cas thiaj muaj ntau yam tsos mob. Tsis yog txhua tus menyuam yuav muaj tag nrho cov tsos mob no. Cov tsos mob tseem ceeb yog lub ntsej muag txawv txawv, kev loj hlob qeeb, kev tsis taus ntawm lub hlwb, thiab qaug dab peg.
Cia peb saib cov tsos mob no kom meej meej hauv ib lub rooj.
| Cov lag luam cuam tshuam | Cov yam ntxwv pom ntau |
|---|---|
| Cov yam ntxwv ntawm lub ntsej muag |
|
| Kev loj hlob thiab lub cev | |
| Lub paj hlwb thiab kev txawj ntse | |
| Cov kab mob sab hauv |
Yuav kuaj mob li cas?
Qee zaum, koj tus kws kho mob yuav xav tias muaj tus mob no vim yog qee yam ntawm koj tus menyuam lub cev uas pom thaum koj lub sijhawm kuaj ultrasound tas li thaum cev xeeb tub. Tsis tas li ntawd, qee qhov kev kuaj ntshav tshwj xeeb (kev kuaj DNA tsis muaj cell) uas tam sim no muaj tuaj yeem muab cov lus qhia txog cov teeb meem chromosomal.
Tiam sis nco ntsoov, cov no tsuas yog kev kuaj xwb. Nws tsis yog 100% paub tseeb tias ib tug me nyuam muaj tus mob tsuas yog vim muaj ib qho cim qhia xwb.
Yuav kom paub tseeb tias qhov kev kuaj mob tseeb, yuav tsum muaj kev kuaj noob caj noob ces tshwj xeeb. Ntawm lawv, qhov tseem ceeb tshaj plaws yog qhov kev kuaj 'fluorescence in situ hybridization (FISH)' . Qhov no tuaj yeem ntes tau qhov poob ntawm ib feem ntawm cov chromosome thib plaub nrog ntau dua 95% qhov tseeb. Qhov kev kuaj no tuaj yeem ua ua ntej lossis tom qab tus menyuam yug los.
Yog tias koj tus menyuam raug lees paub tias muaj tus kab mob Wolf-Hirschhorn, koj tus kws kho mob yuav pom zoo kom kuaj ntxiv, xws li kev luam theej duab, kom paub meej tias lwm qhov ntawm lub cev raug cuam tshuam li cas.
Yuav kho li cas?
Tej zaum koj yuav tu siab hnov qhov no, tab sis qhov tseeb yog tias tseem tsis tau pom muaj kev kho mob uas tuaj yeem kho tau Wolf-Hirschhorn tus mob.
Tiamsis qhov ntawd tsis tau txhais hais tias peb ua tsis tau dab tsi li. Lub hom phiaj tseem ceeb ntawm kev kho mob yog los tswj tus menyuam cov tsos mob thiab pab lawv kom lawv ua neej zoo tshaj plaws.
Vim txhua tus menyuam txawv, txoj kev npaj kho mob yuav txawv ntawm ib tus menyuam mus rau lwm tus. Feem ntau, txoj kev npaj kho mob no yuav muaj cov hauv qab no:
| Txoj kev kho mob | Lub Hom Phiaj |
|---|---|
| Kev Kho Mob Lub Cev thiab Kev Kho Mob Ua Haujlwm | Txhawm rau kom cov leeg muaj zog, ua kom muaj kev txav mus los, thiab cob qhia lawv kom ua tiav cov haujlwm txhua hnub ntawm lawv tus kheej. |
| Kev Kho Mob Tshuaj | Muab tshuaj, tshwj xeeb tshaj yog kom tswj tau qhov qaug dab peg. |
| Kev phais mob | Kev phais kho cov teeb meem thaum yug los xws li lub plawv lossis lub hlwb tsis zoo. |
| Kev Kawm Tshwj Xeeb | Muab kev kawm uas haum rau tus menyuam lub peev xwm kawm. |
| Kev Pab Tswv Yim Txog Genetic | Txhawm rau muab kev nkag siab rau cov tswv cuab ntawm tsev neeg txog qhov teeb meem thiab tham txog cov kev pheej hmoo uas cuam tshuam nrog kev tsa menyuam yav tom ntej. |
Kev saib xyuas tus menyuam no yog ib qho kev sib koom tes loj heev. Nws xav tau kev pab los ntawm ntau tus neeg, suav nrog cov kws kho mob menyuam yaus, cov kws kho lub cev, thiab cov kws kho kev hais lus.
Cov Lus Qhia Txog Kev Coj Mus Tsev
- Tus mob Wolf-Hirschhorn syndrome yog ib yam mob uas tsis tshua muaj los ntawm noob caj noob ces. Feem ntau nws tshwm sim los ntawm qhov tsis yog qhov txhaum ntawm niam txiv.
- Cov tsos mob thiab qhov hnyav ntawm txhua tus menyuam txawv.
- Txawm hais tias tus mob no tsis tuaj yeem kho tau tag nrho los xij, muaj ntau txoj kev kho mob uas siv tau los tswj cov tsos mob thiab muab lub neej zoo dua rau tus menyuam.
- Rau qhov no, kev txhawb nqa ntawm pab pawg kws kho mob thiab kws kho mob yog qhov tseem ceeb.
- Kev saib xyuas ib tug me nyuam zoo li no yog ib qho nyuaj. Ua ib tug niam txiv, nws yog ib qho tseem ceeb rau koj kom saib xyuas koj tus kheej lub hlwb thiab tau txais kev txhawb nqa uas koj xav tau.
- Yog koj muaj lus nug lossis kev txhawj xeeb txog koj tus menyuam tus mob, tham nrog koj tus kws kho mob yam qhib siab.
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Tsis muaj lus teb tau muab tso tawm. Ntxiv koj cov lus tawm ntawm no thawj zaug.
Ntxiv koj cov lus