Qhov sib txawv tseem ceeb ntawm Prader Willi thiab Angelman syndrome yog tias Prader Willi syndrome yog tshwm sim los ntawm kev poob ntawm kev ua haujlwm ntawm niam txiv qhia cov noob hauv thaj tsam ntawm chromosome 15 vim yog kev tshem tawm lossis kev tsis sib haum xeeb thaum Angelman syndrome yog tshwm sim los ntawm tus kab mob. poob ntawm kev ua haujlwm ntawm niam txiv qhia cov noob hauv thaj tsam ntawm chromosome 15 vim yog kev tshem tawm lossis kev tsis sib haum xeeb.
Prader Willi thiab Angelman syndromes yog ob yam kab mob caj ces uas tuaj yeem tshwm sim vim qhov poob ntawm thaj chaw chromosomal vim kev tshem tawm. Lawv kuj tseem cuam tshuam nrog kev tsis sib haum xeeb, uas yog hais txog qhov xwm txheej uas ob daim ntawv theej ntawm chromosome los ntawm tib niam txiv tsis yog ib daim ntawv los ntawm leej niam thiab lwm daim ntawv los ntawm leej txiv. Tsis tas li ntawd, lawv tseem hu ua genetic (los yog genomic) imprinting disorders.
Prader Willi Syndrome yog dab tsi?
Prader Willi Syndrome yog ib yam kab mob caj ces tshwm sim los ntawm kev poob ntawm kev ua haujlwm ntawm niam txiv qhia cov noob hauv thaj tsam ntawm chromosome 15 vim yog kev tshem tawm lossis kev tsis sib haum xeeb. Hauv Prader Willi syndrome, txog 74% ntawm cov neeg mob tshwm sim thaum ib feem ntawm leej txiv chromosome 15 raug tshem tawm. Hauv lwm 25% ntawm cov neeg mob, tus neeg raug mob muaj ob daim ntawv luam ntawm niam txiv chromosome 15 thiab tsis muaj ib daim ntawv luam ntawm leej txiv. Raws li qhov chaw ntawm chromosome los ntawm leej niam raug muab tua los ntawm kev luam tawm, lawv xaus nrog tsis muaj cov ntawv luam ntawm qee cov noob.
Daim duab 01: Prader Willi Syndrome
Cov tsos mob ntawm cov menyuam mos uas raug kev txom nyem los ntawm Prader Willi syndrome tuaj yeem suav nrog cov leeg nqaij tsis zoo, lub ntsej muag sib txawv, tsis zoo nqus cov pa, feem ntau ua rau tsis zoo, thiab qhov chaw mos tsis zoo. Cov cim qhia thiab cov tsos mob ntawm cov menyuam yaus mus txog rau cov neeg laus tuaj yeem suav nrog kev xav noj zaub mov thiab qhov hnyav nce, cov kab mob sib deev tsis zoo, kev loj hlob tsis zoo thiab kev loj hlob ntawm lub cev, kev paub tsis meej, kev loj hlob qeeb, teeb meem hais lus, teeb meem kev coj cwj pwm, teeb meem pw tsaug zog, scoliosis, teeb meem hauv plab, txo qis qaub ncaug. ntws, pom teeb meem, teeb meem hauv kev tswj kub, thiab tsis muaj pigmentations ua rau cov plaub hau, qhov muag, tawv nqaij daj ntseg.
Cov kab mob caj ces no tuaj yeem kuaj tau los ntawm kev kuaj lub cev, kuaj ntshav, thiab kuaj caj ces. Tsis tas li ntawd, cov menyuam yaus uas muaj Prader Willi syndrome raug kho los ntawm kev noj zaub mov zoo, kev kho tib neeg txoj kev loj hlob hormone, kev sib deev hormone kev kho mob, kev tswj qhov hnyav, kev kho mob pw tsaug zog, ntau yam kev kho mob, kev coj cwj pwm, kev kho mob hlwb, thiab lwm yam kev kho mob rau cov teeb meem tsis pom kev, hypothyroidism, ntshav qab zib., scoliosis, thiab lwm yam. Ntau tus neeg laus uas muaj kab mob caj ces no nyob hauv cov chaw tu neeg hauv tsev, uas ua rau lawv noj zaub mov zoo, nyob nyab xeeb, ua haujlwm, thiab lom zem ua si.
Angelman Syndrome yog dab tsi?
Angelman Syndrome yog ib yam kab mob caj ces tshwm sim los ntawm kev poob ntawm kev ua haujlwm ntawm niam txiv qhia cov noob hauv thaj tsam ntawm chromosome 15 vim yog kev tshem tawm lossis kev tsis sib haum xeeb. Angelman syndrome yog vim tsis muaj kev ua haujlwm ntawm thaj tsam ntawm chromosome 15 los ntawm kev tshem tawm lossis hloov pauv tshiab (kev rho tawm lossis hloov pauv ntawm UBE3Agene ntawm chromosome 15). Qee zaum, nws tshwm sim vim tau txais ob daim ntawv theej ntawm chromosome 15 los ntawm ib tus neeg txiv thiab tsis yog los ntawm leej niam. Raws li leej txiv cov ntawv luam tawm tsis ua haujlwm los ntawm genomic imprinting, tsis muaj kev ua haujlwm ntawm cov noob tseem nyob.
Daim duab 02: Angelman Syndrome
Cov tsos mob thiab cov tsos mob ntawm tus mob no yuav suav nrog kev txhim kho qeeb: tsis muaj kev nkag los lossis hais lus ntawm 6 mus rau 12 lub hlis, kev txawj ntse, tsis hais lus, taug kev nyuaj, nquag luag ntxhi thiab luag, zoo siab, zoo siab, tus cwj pwm zoo siab, nqus los yog noj nyuaj., teeb meem pw tsaug zog thiab pw tsaug zog, qaug dab peg feem ntau ntawm cov hnub nyoog 2 txog 3 xyoos, txhav lossis txhav, lub taub hau me me nrog flatness nyob rau sab nraub qaum ntawm lub taub hau, tus nplaig thrusting, plaub hau, tawv nqaij, thiab ob lub qhov muag muaj xim sib dua, Cov cwj pwm txawv xws li txhais tes flapping thiab caj npab uplifted thaum taug kev, teeb meem pw tsaug zog, thiab nkhaus qaum.
Ntxiv mus, qhov kev mob caj ces no tuaj yeem kuaj tau los ntawm kev kuaj lub cev, kuaj ntshav, kuaj kev hais lus, kuaj niam txiv DNA qauv, kuaj chromosomes ploj, thiab kuaj cov noob hloov. Tsis tas li ntawd, kev kho mob rau Angelman syndrome suav nrog tshuaj tiv thaiv qaug dab peg, kho lub cev, kev sib txuas lus thiab kev hais lus, kev coj cwj pwm thiab kev siv tshuaj thiab kev cob qhia pw tsaug zog, kev hloov pauv kev noj haus, thiab tshuaj noj.
Dab tsi zoo sib xws ntawm Prader Willi thiab Angelman Syndrome?
- Prader Willi thiab Angelman syndromes yog ob yam kab mob caj ces uas tuaj yeem yog vim qhov poob ntawm thaj av chromosomal vim kev tshem tawm lossis kev tsis sib haum xeeb.
- Lawv tseem hu ua genetic imprinting disorders.
- Ob txoj kev tsis sib haum xeeb tsis tau txais.
- Cov kab mob no tshwm sim vim muaj teeb meem hauv chromosome 15.
- txiv neej thiab poj niam sib npaug sib luag los ntawm ob qho tib si.
- Lawv kho tau los ntawm kev txhawb nqa.
Qhov txawv ntawm Prader Willi thiab Angelman Syndrome yog dab tsi?
Prader Willi syndrome yog ib yam kab mob uas tshwm sim los ntawm kev poob ntawm kev ua haujlwm ntawm niam txiv qhia cov noob hauv thaj tsam ntawm chromosome 15 vim yog kev tshem tawm lossis kev tsis sib haum xeeb, thaum Angelman syndrome yog kab mob caj ces tshwm sim los ntawm kev ua haujlwm ntawm niam txiv. noob nyob rau hauv ib cheeb tsam ntawm chromosome 15 vim ib tug deletion los yog uniparental disomy. Yog li, qhov no yog qhov sib txawv tseem ceeb ntawm Prader Willi thiab Angelman syndrome. Tsis tas li ntawd, tus kab mob tshwm sim rau Prader Willi syndrome yog ib qho ntawm 15000 tus neeg, thaum tus kab mob kis rau Angelman syndrome yog ib ntawm 12000 txog 20000 tus neeg.
Cov hauv qab no qhia txog qhov sib txawv ntawm Prader Willi thiab Angelman syndrome nyob rau hauv daim ntawv qhia rau ib sab ntawm kev sib piv.
Summary – Prader Willi vs Angelman Syndrome
Prader Willi thiab Angelman syndromes yog ob yam kab mob tsis tshua muaj caj ces. Prader Willi syndrome yog ib yam kab mob caj ces tshwm sim los ntawm kev poob ntawm kev ua haujlwm ntawm niam txiv qhia cov noob hauv thaj tsam ntawm chromosome 15 vim yog kev tshem tawm lossis kev tsis sib haum xeeb. Lub caij no, Angelman syndrome yog ib yam kab mob caj ces tshwm sim los ntawm kev poob ntawm kev ua haujlwm ntawm niam txiv qhia cov noob hauv thaj tsam ntawm chromosome 15 vim yog kev tshem tawm lossis kev tsis sib haum xeeb. Yog li, qhov no yog qhov sib txawv tseem ceeb ntawm Prader Willi thiab Angelman syndromes.
