I-Fragile X syndrome: iyini, izici nokwelashwa

-Delile

• Izici eziyinhloko zesifo
• Ukuxilongwa kwenziwa kanjani
• Yelashwa kanjani

I-Fragile X syndrome yisifo sofuzo esenzeka ngenxa yokuguquka kwe-X chromosome, okuholela ekwenzekeni kokuphindaphindeka okuningana kokulandelana kwe-CGG.

Ngenxa yokuthi bane-X chromosome eyodwa kuphela, abafana bathinteka kakhulu ngalesi sifo, bethula izimpawu ezifana nobuso obude, izindlebe ezinkulu, kanye nezici zokuziphatha ezifana ne-autism. Lokhu kuguquka kungenzeka futhi emantombazaneni, kodwa-ke izimpawu nezimpawu zinzima kakhulu, ngoba njengoba zinama-chromosomes amabili ama-X, i-chromosome ejwayelekile ihlawula ukukhubazeka komunye.

Ukuxilongwa kwe-X syndrome entekenteke kunzima, njengoba izimpawu eziningi zingaqondile, kepha uma kunomlando womndeni, kubalulekile ukwenza ukwelulekwa ngezakhi zofuzo ukubheka amathuba okuvela kwalesi sifo. Qonda ukuthi kuyini ukwelulekwa ngezakhi zofuzo nokuthi kwenziwa kanjani.

Izici eziyinhloko zesifo

I-Fragile X syndrome ibonakala kakhulu ngokuphazamiseka kokuziphatha nokukhubazeka kwengqondo, ikakhulukazi kubafana, futhi kungahle kube nobunzima ekufundeni nasekukhulumeni. Ngaphezu kwalokho, kunezici zomzimba ezibandakanya:

• Ubuso obunwetshiwe;
• Izindlebe ezinkulu, eziphumayo;
• Isilevu esiphumelayo;
• Ithoni yemisipha ephansi;
• Izinyawo eziphansi;
• Ulwanga oluphezulu;
• Isigaxa sesundu esisodwa;
• Strabismus noma myopia;
• I-Scoliosis.

Izici eziningi ezihlobene ne-syndrome zibonwa kuphela kusukela ebusheni. Kubafana kusavamile ukuba nesende elikhulisiwe, kuyilapho abesifazane bengaba nezinkinga ngokuzala nokwehluleka kwe-ovari.

Ukuxilongwa kwenziwa kanjani

Ukuxilongwa kwe-X syndrome entekenteke kungenziwa ngokuhlolwa kwamangqamuzana ne-chromosomal, ukukhomba ukuguquka, inani lokulandelana kwe-CGG nezimpawu ze-chromosome. Lezi zivivinyo zivame ukwenziwa ngesampula segazi, amathe, izinwele noma i-amniotic fluid, uma abazali befuna ukuqinisekisa ubukhona besifo ngesikhathi sokukhulelwa.

Yelashwa kanjani

Ukwelashwa kwe-X syndrome entekenteke ikakhulu kuyindlela yokuziphatha ekwelashweni, ukwelashwa ngokomzimba futhi, uma kunesidingo, ukuhlinzwa ukulungisa izinguquko zomzimba.

Abantu abanomlando we-X syndrome entekenteke emndenini kufanele bafune ukwelulekwa ngofuzo ukuthola amathuba okuba nezingane ngalesi sifo. Abesilisa banohlobo lwe-XY karyotype, futhi uma bethintekile bangadlulisela lesi sifo emadodakazini abo kuphela, hhayi emadodaneni abo, ngoba ufuzo olutholwa ngabafana lungu-Y, futhi lokhu akuvezi ushintsho oluhlobene nalesi sifo.