I-Fragile X syndrome: yintoni, iimpawu kunye nonyango

Umxholo

• Iimpawu eziphambili zesifo
• Uxilongo lwenziwa njani
• Unyango lwenziwa njani

Isifo i-Fragile X sisifo semfuza esenzeka ngenxa yotshintsho kwi-X chromosome, ekhokelela ekwenzekeni kokuphindaphindeka ngokulandelelana kweCGG.

Kuba banenye kuphela i-X chromosome, amakhwenkwe achaphazeleka kakhulu kwesi sifo, ebonisa iimpawu ezinje ngobuso obude, iindlebe ezinkulu, kunye nokuziphatha okufanayo ne-autism. Olu tshintsho lunokwenzeka nasemantombazaneni, nangona kunjalo iimpawu kunye neempawu zinzima kakhulu, kuba njengoko zinama-X chromosomes amabini, i-chromosome yesiqhelo iyahlawulela isiphene somnye.

Ukufunyaniswa kwesifo esi-ethe-ethe X kunzima, kuba uninzi lweempawu azicacanga, kodwa ukuba kukho imbali yosapho, kubalulekile ukwenza ingcebiso ngemfuzo ukujonga amathuba esifo. Qonda ukuba yintoni na ingcebiso ngemfuzo kwaye yenziwa njani.

Iimpawu eziphambili zesifo

I-Fragile X syndrome ibonakaliswa kakhulu kukungaziphathi kakuhle kunye nokuphazamiseka kwengqondo, ngakumbi kumakhwenkwe, kwaye kunokubakho ubunzima ekufundeni nasekuthetheni. Ukongeza, kukwakho neempawu ezibonakalayo, ezibandakanya:

• Ubuso obude;
• Iindlebe ezinkulu, eziphumayo;
• Isilevu esikhuselayo;
• Ithoni yezihlunu ezisezantsi;
• Iinyawo ezisicaba;
• Inkalakahla ephezulu;
• Ubunzima besandla esinye;
• Strabismus okanye myopia;
• Scoliosis.

Uninzi lweempawu ezinxulumene nesifo siqwalaselwa kuphela kwinqanaba lokufikisa. Kumakhwenkwe kuqhelekile ukuba ne-testicle eyandisiweyo, ngelixa abasetyhini banokuba nengxaki ngokuzala kunye nokusilela kwe-ovari.

Uxilongo lwenziwa njani

Ukuchongwa kwesifo se-X esibuthathaka kunokwenziwa ngovavanyo lweemolekyuli kunye ne-chromosomal, ukuchonga utshintsho, inani lokulandelelana kweCGG kunye neempawu zekromosome. Olu vavanyo luhlala lwenziwa ngesampulu yegazi, amathe, iinwele okanye ulwelo lwe-amniotic, ukuba abazali bafuna ukuqinisekisa ubukho besifo ngexesha lokukhulelwa.

Unyango lwenziwa njani

Unyango lwe-X syndrome e-ethe-ethe ikakhulu lonyango lokuziphatha, unyango lomzimba kwaye, ukuba kukho imfuneko, utyando ukulungisa utshintsho lomzimba.

Abantu abanembali yesifo esibuthathaka ku-X kusapho kufuneka bafune iingcebiso ngemfuzo ukuze bafumane amathuba okuba babe nabantwana abanesi sifo. Amadoda ane-XY karyotype, kwaye ukuba bayachaphazeleka banokusasaza isifo kuphela kwiintombi zabo, kungaze koonyana babo, kuba ufuzo olufunyenwe ngamakhwenkwe ngu-Y, kwaye oku akubonisi lutshintsho lunxulumene nesi sifo.