Wolf Hirschhorn Syndrome kuaj tau li cas?
Wolf Hirschhorn Syndrome kuaj tau li cas?

Video: Wolf Hirschhorn Syndrome kuaj tau li cas?

Video: Wolf Hirschhorn Syndrome kuaj tau li cas?
Video: Family of girl with Wolf-Hirschhorn Syndrome aims to raise awareness of rare disease 2024, Kaum ib hlis
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Cov kuaj mob tau lees paub los ntawm kev tshawb pom ntawm kev tshem tawm ntawm Hma - Hirschhorn Syndrome Cov cheeb tsam tseem ceeb (WHSCR) los ntawm cytogenetic (chromosome) tsom xam. Kev soj ntsuam cytogenetic ib txwm pom tsawg dua ib nrab ntawm cov kev tshem tawm uas ua rau WHS.

Raws li, Wolf Hirschhorn syndrome tuaj yeem kuaj pom?

Ib qho kev sim ntawd tuaj yeem ntes tau ntau tshaj 95% ntawm chromosome deletions nyob rau hauv Hma - Hirschhorn yog hu ua "fluorescence in situ hybridization" (FISH) test. Kev sim ua tom qab koj tus menyuam yug los thiab ua tau txheeb xyuas qhov kev tshem tawm ib nrab ntawm cov chromosome.

Dab tsi yog lub neej expectancy ntawm ib tug neeg nrog Wolf Hirschhorn Syndrome? Qhov nruab nrab lub neej expectancy tsis paub. Cov leeg tsis muaj zog tuaj yeem ua rau muaj kev pheej hmoo kis mob hauv siab thiab thaum kawg tuaj yeem txo qis lub neej expectancy . Ntau tus neeg, thaum tsis muaj lub plawv mob hnyav, mob hauv siab, thiab qaug dab peg tsis tau, muaj sia nyob mus rau hauv cov neeg laus.

Yog li, dab tsi yog cov tsos mob ntawm Wolf Hirschhorn Syndrome?

Wolf-Hirschhorn Syndrome (WHS) yog ib yam kab mob caj ces uas cuam tshuam rau ntau qhov chaw ntawm lub cev. Cov yam ntxwv tseem ceeb muaj xws li cov yam ntxwv ntawm lub ntsej muag, ncua kev loj hlob thiab kev loj hlob, kev tsis taus kev txawj ntse , cov leeg nqaij qis (hypotonia), thiab qaug dab peg.

Wolf Hirschhorn syndrome tau txais txiaj ntsig li cas?

Ntawm 85 thiab 90 feem pua ntawm tag nrho cov mob ntawm Hma - Hirschhorn Syndrome tsis yog tau qub txeeg qub teg . Lawv tshwm sim los ntawm chromosomal deletion uas tshwm sim raws li ib qho kev tshwm sim random (de novo) thaum lub sij hawm tsim cov qe hlwb (qe los yog phev) los yog thaum ntxov embryonic txoj kev loj hlob.

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