I-Patau Syndrome Ingatholakala Ngesikhathi Sokukhulelwa
Ukungahleleki kwe-Chromosomal kunesibopho sokuphazamiseka nokusabalalisa. Ukungahleleki kungabangela izinkinga ezibalulekile, kuhlanganise ne-Down Syndrome nezinye izintabiso zokuthuthukiswa noma izinkinga zezempilo. E-trisomy, abantu banamakhophi amathathu we-chromosome kunama-2 njengoba evamile.
I-Patau syndrome, noma i-Trisomy 13, iyinto engavamile kakhulu ye-autosomal trisomies futhi eyingozi kakhulu, ngemva kwe- Down syndrome (Trisomy 21) ne- Edwards syndrome (i-Trisomy 18) .
Ikhophi eyengeziwe ye-chromosome 13 ku-Patau syndrome ibangela ukukhubazeka okukhulu kwezinzwa ze-neurological and heart eyenza kube nzima ukuba izinsana zisinde. Isizathu esiqondile sePatau syndrome asiyazi; okufanayo kuyi- VATER Syndrome . I-Patau ibonakala ithinta abesifazane ngaphezu kwabesilisa, cishe ngenxa yokuthi izifunu zesilisa aziphili kuze kube sekuzalweni. I-Patau syndrome, efana ne-Down syndrome, ihlotshaniswa nokukhula komama. Kungathinta abantu bazo zonke izinhlanga.
Izimpawu
Izinsana ezizalwe nge-Patau syndrome zivame ukungabi nokukhubazeka okungokwenyama noma izinkinga ezingqondweni. Izinsana eziningi azilondolozi esikhathini esidlule ngenyanga yokuqala noma phakathi nonyaka wokuqala. Ezinye izimpawu zifaka:
- Iminwe eminye noma izinzwani (polydactyly)
- Izinyawo ezikhubazekile, ezaziwa njengezinyawo eziyi-rocker-phansi
- Izinkinga ze-neurological ezifana nenhloko encane (microcephaly), ukuhluleka kobuchopho ukuhlukanisa zibe yi-halves ngesikhathi sokubeletha (holoprosencephaly), ukuntuleka okukhulu kwengqondo
- Ukukhubazeka kwesobuso njengamaboni amancane (i-microphthalmia), impumulo engekho noma engalungile, i-lip and lip
- Ukukhubazeka kwenhliziyo (abantu abangu-80%)
- Izinkinga zezinso
Ukuvama
I-Patau syndrome ayiyona into evamile; Abantwana abangu-16 000 kuphela abanenkinga. Amaphesenti angu-95 wezingane ezinePatau syndrome ziyafa ngaphambi kokuzalwa.
Ukuxilongwa
Izimpawu zePatau syndrome zibonakala ekuzalweni. I-Patau syndrome ingase iphutha ngenxa ye-syndrome ye-Edwards, ngakho-ke ukuhlolwa kofuzo kufanele kwenziwe ukuze kuqinisekiswe ukuthi kutholakala yini. Ucwaningo lokucwaninga olunjenge- computed tomography (CT) noma i- imagery magnetic resonance (MRI) kufanele yenziwe ukuze ubukeke ubuchopho, izinhliziyo, nezinso zezinso. I-ultrasound yenhliziyo (i-echocardiogram) kufanele yenziwe ngenxa yemvamisa ephezulu yeziphambeko zenhliziyo ezihlobene nePatau syndrome.
Ukwelapha
Ukwelashwa kwe-Patau syndrome kugxile ezinkingeni ezithile zomzimba lapho ingane ngayinye izalwa khona. Izinsana eziningi zinenkinga yokusinda ezinsukwini ezimbalwa zokuqala noma amasonto ngenxa yenkinga enkulu yezinzwa noma izinkinga ezinzima zenhliziyo. Kungase kudingeke ukuthi kuhlinzekwe ukulungisa ukukhubazeka kwenhliziyo noma ukugcoba umlomo kanye ne-palate. Ukwelapha ngokomzimba, emsebenzini, nokukhuluma kuzosiza abantu abanePatau syndrome ukuba bafinyelele ekuthuthukiseni kwabo okugcwele.
Okufanele ngikwenze
Uma ingane yakho itholwe ukuthi ikhona ne-Patau syndrome ngaphambi kokuzalwa, udokotela wakho uzohamba ngezinketho nawe. Abanye abazali bakhetha ukungenelela okujulile, kanti abanye bakhetha ukuqeda ukukhulelwa. Abanye bazoqhubeka nokukhulelwa futhi banikeze ukunakekelwa okuqhubekayo empilweni yengane. Nakuba amathuba okusinda aphansi kakhulu, abanye abantu banquma ukuzama ukunakekelwa okujulile ukukhulisa impilo yengane.
Lezi zinqumo zithandwa kakhulu futhi zingenziwa kuphela wena, umlingani wakho nodokotela wakho.
Ukululekwa nge-Genetic nokusekela
Abazali bomntwana ozalwe nge-Patau syndrome bazothola ukweluleka ngokwezakhi zofuzo ukuze banqume ukuthi ingozi yabo ingaba yini enye ingane ene-syndrome. Imithombo enhle yokwaziswa nokwesekwa yiNhlangano Yokusekela I-Trisomy 18, 13 kanye nezinye izifo ezihlobene (SOFT).
> Imithombo:
> Okuhle, RG, Stallworth, J., & Dacus, JV (2002). I-Patau Syndrome.
> "Patau Syndrome." I-Library Yomphakathi Yempilo Yokwelapha, ngo-2009.