Jacobsen Syndrome (JS) yog ib qho kev sib txuas ntawm cov noob caj ces tshwm sim los ntawm kev tshem tawm ib nrab ntawm caj npab ntev ntawm chromosome 11. Tus mob tau piav qhia thawj zaug los ntawm Jacobsen hauv 1973 hauv tsev neeg nrog ntau tus tswv cuab uas tau txais qhov tsis sib npaug 11; 21 qhov kev hloov pauv tau muab los ntawm cov niam txiv sib npaug sib npaug ntawm tus neeg nqa khoom [1].
Puas muaj pes tsawg tus neeg hauv Asmeskas muaj tus mob Jacobsen?
Thaum qhov muaj ntau ntawm Jacobsen syndrome tsis paub, qhov kev yug me nyuam tau pom zoo ntawm 1/50, 000-100, 000 hauv Tebchaws Meskas, nrog rau poj niam / txiv neej piv ntawm 2:1.
Leej twg yog tus mob Jacobsen muaj npe tom qab?
Tus mob no tau pom thawj zaug los ntawm Danish geneticist Petrea Jacobsen xyoo 1973 thiab tau muab npe rau nws. Nws nrhiav pom Jacobsen syndrome nyob rau hauv ib tsev neeg uas muaj ntau tus neeg mob.
Puas Jacobsen syndrome kho tau?
Tsis muaj kev kho rau Jacobsen syndrome; Kev kho mob feem ntau tsom rau cov cim tshwj xeeb thiab cov tsos mob tshwm sim hauv txhua tus neeg. Kev kho mob yuav xav tau kev sib koom tes ntawm pab pawg ntawm ntau tus kws tshaj lij. Cov tib neeg uas tsis tshua muaj platelet suav (thrombocytopenia) yuav tsum tau saib xyuas tsis tu ncua.
Thaum twg Jacobsen syndrome kuaj tau?
Cov chromosome tawg thiab cov noob uas tau muab tshem tawm yuav pom. Jacobsen syndrome tuaj yeem kuaj tau kuaj mob thaum cev xeeb tub. Yog hais tias ib qho ultrasound chij ib yam dab tsi txawv txav, kev kuaj ntxiv tuaj yeemua tiav. Cov ntshav tuaj yeem coj los ntawm leej niam thiab tshuaj xyuas.
