Video: Dab tsi yog cov tsos mob ntawm Jacobsen syndrome?
2024 Tus sau: Michael Samuels | [email protected]. Kawg hloov kho: 2023-12-16 01:44
Jacobsen Syndrome 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 tus mob (los ntshav tsis meej pem ); lub ntsej muag txawv; ncua kev loj hlob ntawm lub cev muaj zog thiab kev hais lus; thiab kev paub tsis meej.
Kuj nug, dab tsi ua rau Jacobsen syndrome?
Jacobsen Syndrome 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.
Kuj Paub, muaj ntau npaum li cas yog Jacobsen syndrome? Jacobsen Syndrome yog a tsawg Congenital mob uas yog tshwm sim los ntawm kev tshem tawm ntau cov noob hauv chromosome 11. Nws yog qee zaum hu ua ib nrab monosomy 11q. Nws tshwm sim hauv kwv yees li 1 ntawm 100,000 tus menyuam yug tshiab.
Tsis tas li cov lus nug yog, lub neej expectancy ntawm ib tug neeg muaj tus mob Jacobsen yog dab tsi?
Cov lub neej cia siab ntawm cov neeg nrog Jacobsen Syndrome tsis paub, txawm hais tias cov tib neeg cuam tshuam tau nyob rau hauv neeg laus. Cov tus mob muab nws lub npe los ntawm Dr. Petra Jacobsen , uas thawj zaug piav txog tus menyuam cuam tshuam rau xyoo 1973.
Puas muaj kev kuaj cev xeeb tub 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.
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