Video: Koj puas pom nrog miv qhov muag syndrome?
2024 Tus sau: Michael Samuels | [email protected]. Kawg hloov kho: 2023-12-16 01:44
Cov cim thiab cov tsos mob ntawm miv qhov muag syndrome sib txawv, tab sis suav nrog: Iris coloboma. Anal atresia (qhib rau lub qhov quav yog ploj lawm) Daim tawv nqaij lossis cov qhov hauv pem hauv ntej ntawm pob ntseg.
Cov tsos mob.
| Cov Cai Kho Mob | Lwm Lub Npe | Kawm Ntxiv: HPO ID |
|---|---|---|
| 80% -99% ntawm tib neeg muaj cov tsos mob no | ||
| Qhov ntswg atresia | Tsis muaj qhov quav | 0002023 |
Hauv qhov no, cov neeg uas muaj qhov muag qhov muag puas pom?
Cov tsos mob. Cat qhov muag syndrome cuam tshuam rau txoj kev uas qee qhov ntawm tus menyuam lub cev tau tsim ua ntej nws yug los. Cov tsos mob koj pom tau muaj xws li: Cleft di ncauj los yog palate.
Ib yam li ntawd, cat eye syndrome muaj ntau npaum li cas? Qhov xwm txheej ntawm Cat Eye Syndrome miv qhov muag syndrome cuam tshuam rau txiv neej thiab poj niam thiab kwv yees tias tshwm sim hauv 1 ntawm 50,000 txog 1 ntawm 150,000 tus neeg. 1? Yog tias koj muaj CES, koj muaj feem ntau tsuas yog ib tus hauv koj tsev neeg muaj tus mob vim nws yog chromosomal txawv txav uas tsis zoo li cov noob.
Ua li no, ua li cas thiaj paub qhov muag miv miv miv miv?
Cov kuaj mob ntawm CES yog raws li qhov muaj cov khoom siv chromosomal ntxiv los ntawm chromosome 22q11. (saib "Ua rau" saum toj no). Nws muaj peev xwm hais tias a kuaj mob ntawm CES tej zaum yuav xav tias ua ntej yug (prenatally) raws li tshwj xeeb kev xeem , xws li ultrasound, amniocentesis, thiab/lossis chorionic villus sampling (CVS).
Lwm lub npe yog dab tsi rau miv qhov muag syndrome?
Ib qho piv txwv ntawm qhov tsis xws luag tom qab lub npe CES. Cat qhov muag syndrome los yog Schmid -Fraccaro tus mob , yog ib yam mob uas tsis tshua muaj tshwm sim los ntawm caj npab luv (p) thiab ib feem me me ntawm caj npab ntev (q) ntawm tib neeg chromosome 22 tam sim no peb (trisomic) lossis plaub zaug (tetrasomic) es tsis txhob siv ob zaug li niaj zaus.
Pom zoo:
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