Dab tsi yog qhov ua rau Jacobsen syndrome?

2024 Tus sau: Michael Samuels | [email protected]. Kawg hloov kho: 2023-12-16 01:44

Jacobsen syndrome: cov tsos mob yog ib yam mob ua los ntawm kev poob ntawm cov khoom siv caj ces los ntawm chromosome 11. Vim tias qhov tshem tawm no tshwm sim thaum kawg (ntu kawg) ntawm qhov ntev (q) caj npab ntawm chromosome 11, Jacobsen Syndrome tseem hu ua 11q terminal deletion tsis meej pem . Cov cim thiab Cov tsos mob ntawm Jacobsen syndrome sib txawv heev.

Ntxiv rau qhov no, cov tsos mob ntawm Jacobsen syndrome yog dab tsi?

Jacobsen syndrome: cov tsos mob yog ib qho mob tshwm sim los ntawm kev tshem tawm ntau cov noob ntawm chromosome 11. Cov cim thiab tsos mob sib txawv ntawm cov neeg cuam tshuam tab sis feem ntau suav nrog Paris-Trousseau syndrome (los ntshav tsis meej pem ); lub ntsej muag txawv; ncua kev txhim kho kev txawj tsav tsheb thiab hais lus; thiab kev paub tsis meej.

Kuj Paub, puas muaj kev kuaj ua ntej yug menyuam rau Jacobsen syndrome? Kev kuaj mob ua ntej yug menyuam ntawm 11q tshem tawm yog ua tau los ntawm amniocentesis lossis chorionic villus sampling thiab cytogenetic tsom xam. Me nyuam mos nrog Jacobsen Syndrome tej zaum yuav muaj teeb meem ntawm kev pub mis thiab kev pub mis yuav tsim nyog. Kev saib xyuas tshwj xeeb yuav tsum tau mob siab rau vim muaj teeb meem hematological.

Yog li ntawd, Jacobsen syndrome tshwm sim li cas?

Jacobsen syndrome yog tshwm sim los ntawm kev tshem tawm cov khoom siv caj ces los ntawm caj npab ntev ntawm chromosome 11. Qhov loj ntawm kev tshem tawm yuav txawv ntawm cov neeg mob, tab sis kev tshem tawm ib txwm tshwm sim ntawm qhov kawg davhlau ya nyob twg ntawm q caj npab ntawm chromosome 11. Ntawm no tus neeg cuam tshuam yuav muaj cov tsos mob cuam tshuam nrog 11q thiab 11p tshem tawm.

Puas muaj leej twg tuaj yeem ua tus neeg sib tw rau Jacobsen syndrome?

Feem ntau ntawm Jacobsen Syndrome tsis tau qub txeeg qub teg. Tsuas yog nyob nruab nrab ntawm 5 thiab 10 feem pua ntawm cov neeg mob tshwm sim thaum tus menyuam tau txais txiaj ntsig tsis meej pem los ntawm niam txiv uas tsis muaj kev cuam tshuam. Cov niam txiv no muaj cov khoom siv caj ces uas tau hloov dua tshiab tab sis tseem muaj nyob hauv chromosome 11. Qhov no yog hu ua balanced translocation.