DiGeorge syndrome kuaj tau li cas?
DiGeorge syndrome kuaj tau li cas?

Video: DiGeorge syndrome kuaj tau li cas?

Video: DiGeorge syndrome kuaj tau li cas?
Video: Digeorge syndrome | Flashcards | USMLE | neetpgprep | Medicine 2024, Lub Xya hli ntuj
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Kev kuaj mob . DiGeorge syndrome: Cov tsos mob feem ntau yog kuaj mob nrog cov ntshav xeem hu ua FISH analysis (Fluorescent In Situ Hybridization). Ib tus kws saib xyuas kev noj qab haus huv yuav thov kom FISH tshuaj xyuas yog tias tus menyuam muaj cov tsos mob uas tuaj yeem qhia tau DiGeorge syndrome: Cov tsos mob , lossis yog tias muaj cov cim ntawm lub plawv tsis xws luag.

Kuj paub, Velocardiofacial syndrome kuaj tau li cas?

VCFS xav tias yog ib tug kuaj mob raws li kev soj ntsuam kuaj mob thiab muaj cov tsos mob thiab cov tsos mob ntawm tus kab mob syndrome . Cov ntshav tshwj xeeb xeem hu ua FISH (fluorescence in situ hybridization) yog tom qab ntawd ua tiav los nrhiav kev tshem tawm hauv chromosome 22q11.

Ib tus kuj tseem yuav nug tau tias, DiGeorge syndrome tau txais txiaj ntsig li cas? DiGeorge syndrome: Cov tsos mob feem ntau yog vim raug rho tawm ntawm 30 txog 40 noob hauv nruab nrab ntawm chromosome 22 ntawm qhov chaw hu ua 22q11. 2. Kwv yees li 90% ntawm cov xwm txheej tshwm sim vim muaj kev hloov pauv tshiab thaum lub sijhawm txhim kho thaum ntxov, thaum 10% yog tau txais qub txeeg qub teg los ntawm ib tus neeg niam txiv.

Hais txog qhov no, DiGeorge Syndrome zoo li cas?

Ib tug xov tooj ntawm lub ntsej muag tshwj xeeb tej zaum yuav ua tam sim no hauv qee tus neeg nrog 22q11. 2 kev rho tawm syndrome . Cov no suav nrog qhov me me, teeb tsa pob ntseg, qhov dav dav ntawm qhov muag qhib (palpebral fissures), lub qhov muag npog, lub ntsej muag ntev, lub qhov ntswg loj (qhov muag), lossis luv los yog flattened zawj hauv daim di ncauj sab saud.

DiGeorge syndrome puas tuaj yeem kuaj pom ua ntej yug?

Kev kuaj mob ntawm DiGeorge syndrome tuaj yeem ua tau ua los ntawm kev kuaj ultrasound nyob ib ncig ntawm lub kaum yim lub lim tiam ntawm cev xeeb tub, thaum muaj kev txawv txav hauv kev loj hlob ntawm lub plawv lossis palate ua tau ua kuaj pom . Lwm cov txheej txheem uas siv los kuaj mob syndrome ua ntej yug hu ua fluorescence in situ hybridization, lossis FISH.

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