Thaum peb xav txog Down's syndrome, thawj yam uas peb xav txog yog trisomy 21 ua, los yog Down syndrome. Ntau npaum li ntawd thaum peb tham txog ib tug neeg uas muaj Down's syndrome, peb yeej xav tias lawv muaj Down's syndrome.
Txawm li cas los xij, trisomy txhais saum toj no tag nrho cov kab mob caj ces, thiab yog li ntawd tuaj yeem siv ntau hom. Yog li muaj ntau ntau hom Down's syndrome.
Down's syndrome yog dab tsi?
Down's syndrome yog qhov tseem ceeb tshaj txhua zaj dab neeg ntawm chromosomes. Peb tham txog aneuploidy, los yog ntau tshaj qhov yooj yim chromosomal anomaly. Hauv ib tus neeg ib txwm, uas tsis raug kev txom nyem los ntawm Down's syndrome, chromosomes mus ua khub. Muaj 23 khub ntawm chromosomes hauv tib neeg, lossis 46 chromosomes hauv txhua tus. Peb hais txog trisomy thaum tsawg kawg yog ib qho ntawm cov khub tsis muaj ob, tab sis peb chromosomes.
Qhov no chromosomal anomaly tuaj yeem tshwm sim thaum lub sij hawm faib cov cuab yeej cuab tam ntawm ob tus neeg koom tes thaum tsim gametes (oocyte thiab spermatozoon), ces thaum lub sij hawm fertilization.
Down's syndrome tuaj yeem cuam tshuam ib khub ntawm chromosomes, qhov paub zoo tshaj plaws yog qhov uas cuam tshuam txog 21 khub chromosomes. Hauv kev muaj tiag, tuaj yeem muaj ntau yam trisomies raws li muaj cov khub ntawm chromosomes. Tsuas yog nyob rau hauv tib neeg, feem ntau trisomies xaus rau kev nchuav menyuam, vim lub embryo tsis siv tau. Qhov no yog qhov tshwj xeeb rau trisomy 16 thiab trisomy 8.
Dab tsi yog hom Down's Syndrome feem ntau?
- Trisomy 21, los yog Down syndrome
Trisomy 21 yog tam sim no thawj zaug kuaj tau ua rau muaj kev puas hlwb caj ces. Nws kuj yog qhov feem ntau thiab siv tau trisomy. Nws tau pom nyob rau nruab nrab thaum muaj 27 cev xeeb tub ntawm 10 thiab nws zaus nce ntxiv nrog rau leej niam hnub nyoog. Muaj nyob ib ncig ntawm 000 tus menyuam yug los nrog Down's syndrome hauv ib xyoos hauv Fab Kis, raws li lub koom haum Lejeune, uas muaj kev kho mob thiab kev puas siab puas ntsws rau cov uas cuam tshuam.
Hauv trisomy 21, chromosome 21 yog nyob rau hauv triplicate es tsis txhob ntawm ob. Tab sis muaj "subcategories" los xaiv trisomy 21:
- dawb, ua kom tiav thiab homogeneous trisomy 21, uas sawv cev kwv yees li 95% ntawm cov neeg mob trisomy 21: peb chromosomes 21 tau sib cais los ntawm ib leeg, thiab qhov tsis zoo tau pom nyob rau hauv tag nrho cov hlwb kuaj (tsawg kawg yog cov tshuaj ntsuam xyuas hauv chav kuaj);
- mosaic trisomy 21 : hlwb nrog 47 chromosomes (xws li 3 chromosomes 21) coexist nrog hlwb nrog 46 chromosomes nrog rau 2 chromosomes 21. Qhov feem ntawm ob pawg ntawm cov hlwb txawv ntawm ib tug mus rau lwm tus thiab, nyob rau hauv tib neeg, los ntawm ib tug mus rau lwm tus. lub cev los yog cov ntaub so ntswg rau cov ntaub so ntswg;
- trisomy 21 los ntawm translocation : genome karyotype qhia peb chromosomes 21, tab sis tsis yog txhua pawg ua ke. Ib qho ntawm peb chromosomes 21 tuaj yeem piv txwv nrog ob chromosomes 14, lossis 12…
Cov tsos mob tseem ceeb ntawm Down's syndrome
« Txhua tus neeg nrog Down's syndrome yog thawj zaug ntawm nws tus kheej, tshwj xeeb, nrog cov cuab yeej cuab tam ua tiav thiab nws thawj txoj hauv kev txhawb nqa ntau dhau ntawm cov noob. », Paub meej lub koom haum Lejeune. Thaum muaj qhov sib txawv ntawm cov tsos mob los ntawm ib tus neeg uas muaj tus mob Down mus rau lwm tus, muaj qee yam ntawm lub cev thiab lub hlwb.
Kev tsis taus kev txawj ntse yog ib qho tas mus li, txawm tias nws tau cim ntau dua los yog tsawg dua los ntawm ib tus neeg mus rau lwm tus. Kuj tseem muaj cov tsos mob ntawm lub cev: me me thiab puag ncig lub taub hau, lub caj dab me me thiab dav, qhov muag qhib dav, strabismus, lub hauv paus tsis meej ntawm lub qhov ntswg, stocky tes thiab ntiv tes luv ... congenital teeb meem Qee zaum tuaj yeem ntxiv rau cov tsos mob no, thiab yuav tsum tau saib xyuas kev kho mob ntau: lub plawv, qhov muag, digestive, orthopedic malformations ...
Txhawm rau tiv thaiv cov teeb meem no zoo dua thiab txwv kev tsis taus ntawm lub cev thiab lub hlwb, Kev saib xyuas ntau yam rau cov neeg uas muaj Down's syndrome : geneticists, psychomotor therapists, physiotherapists, hais lus therapists ...
- Trisomy 13, los yog Patau's syndrome
Trisomy 13 yog vim muaj qhov thib peb chromosomes 13. Tus American geneticist Klaus Patau yog thawj tus piav txog nws, xyoo 1960. Nws qhov xwm txheej yog kwv yees li ntawm 1 / 8 thiab 000 / 1 yug. Hmoov tsis zoo no genetic anomaly muaj teeb meem loj rau tus me nyuam hauv plab: mob hlwb thiab plawv malformations, qhov muag anomalies, malformations ntawm lub cev pob txha thiab lub digestive system…. Feem ntau (kwv yees li 15-000%) ntawm cov fetuses cuam tshuam tuag nyob rau hauv utero. Thiab txawm hais tias nws tseem muaj sia nyob, tus me nyuam nrog Down's syndrome muaj lub neej expectancy tsawg heev, ob peb lub hlis mus rau ob peb xyoos nyob ntawm qhov malformations, thiab tshwj xeeb tshaj yog nyob rau hauv cov kev tshwm sim ntawm mosaicism (sib txawv genotypes tam sim no).
- Trisomy 18, lossis Edwards syndrome
Trisomy 18 qhia, raws li nws lub npe qhia, muaj qhov ntxiv 18 chromosome. Qhov no genetic anomaly yog thawj zaug piav nyob rau hauv 1960 los ntawm cov neeg Askiv geneticist John H. Edwards. Qhov xwm txheej ntawm qhov trisomy yog kwv yees ntawm 1/6 txog 000/1 yug. Hauv 18% ntawm cov neeg mob, trisomy 95 ua rau kev tuag nyob rau hauv utero, lees paub qhov chaw Orphanet, portal rau cov kab mob tsawg. Vim yog mob plawv, paj hlwb, digestive lossis txawm lub raum malformations, cov menyuam yug tshiab nrog trisomy 18 feem ntau tuag thaum lawv thawj xyoo ntawm lub neej. Nrog mosaic lossis translocation trisomy 18, lub neej expectancy yog ntau dua, tab sis tsis tshaj neeg laus.
- Down's syndrome cuam tshuam rau kev sib deev chromosomes
Txij li thaum trisomy tau txhais los ntawm qhov muaj cov chromosome ntxiv hauv karyotype, tag nrho cov chromosomes tuaj yeem koom nrog, suav nrog kev sib deev chromosomes. Kuj tseem muaj trisomies cuam tshuam rau khub ntawm X lossis XY chromosomes. Qhov laj thawj tseem ceeb ntawm cov trisomies no yog cuam tshuam rau cov haujlwm txuas nrog kev sib deev chromosomes, tshwj xeeb tshaj yog cov qib ntawm cov tshuaj hormones poj niam txiv neej thiab cov kab mob hauv lub cev.
Muaj peb hom kev sib deev chromosome trisomy:
- trisomy X, los yog triple X syndrome, thaum tus neeg muaj peb X chromosomes. Tus me nyuam trisomy no yog poj niam, thiab tsis muaj teeb meem kev noj qab haus huv loj. Qhov no genetic anomaly yog feem ntau pom nyob rau hauv neeg laus, thaum lub sij hawm nyob rau hauv-tob soj ntsuam.
- Klinefelter syndrome, lossis XXY trisomy : tus neeg muaj ob X chromosomes thiab ib Y chromosome. Tus neeg feem ntau yog txiv neej, thiab tsis muaj menyuam. Qhov trisomy no ua rau muaj teeb meem kev noj qab haus huv, tab sis tsis muaj deformities loj.
- Jacob's syndrome, los yog trisomy 47-XYY : muaj ob lub Y chromosomes thiab ib X chromosome. Tus kheej yog txiv neej. Qhov no genetic anomaly tsis ua tsis muaj yam ntxwv tsos mob loj, nws yog feem ntau pom nyob rau hauv neeg laus, thaum lub sij hawm ib tug karyotype nqa tawm rau lwm lub hom phiaj.
Cov tsos mob me me, cov caj ces txawv txav ntawm X thiab Y chromosomes tsis tshua pom tau. hauv utero.
Ntawm qhov tod tes, tag nrho lwm cov trisomies (trisomy 8, 13, 16, 18, 21, 22…), yog tias lawv tsis tshwm sim hauv kev nchuav menyuam, feem ntau yog xav tias ntawm ultrasound, muab kev loj hlob retardation, siv nuchal translucency ntsuas, trophoblast biopsy, los yog 'amniocentesis, ua karyotype nyob rau hauv cov ntaub ntawv ntawm xav tias trisomy. Yog tias muaj qhov tsis taus trisomy raug pov thawj, kev kho mob txiav tawm ntawm cev xeeb tub yog npaj los ntawm pab neeg kho mob.