I-turner syndrome (i-Monosomy X) nokulahleka kokukhulelwa kuvame ukuhlobene. I-Turner syndrome yinkinga ye-chromosome lapho intombazane noma owesifazane ephethe i-chromosome eyodwa ephelele ye-X. (Ngoba i-chromosome ye-Y iyadingeka ukuba umuntu abe owesilisa, zonke izinsana ezine-Turner syndrome zingamantombazane.) Nakuba amantombazane azalwe nge-Turner syndrome ngokuvamile anezimo ezinzima zokuphila okuvamile, iningi lezingane ezinesimo silahlekelwa ukuphuma kwesisu noma ukubeletha .
Ukuvama
Cishe u-1 kuzo zonke izinsana ezizalwa ku-1 500 kuya ku-2 500 ezine-Turner syndrome. Kodwa ngokucwaninga, i-monosomy X ikhona ngamaphesenti angaba ngu-3 alowo wonke umqondo, kodwa cishe amaphesenti angu-99 abantwana abathintekile abaphuthelwe noma abangakazalwa. Lesi simo sicatshangwa ukuthi siyisici cishe cishe ngamaphesenti angu-15 azo zonke izisu.
Izimbangela
Isizathu se-Turner syndrome yiphutha ekuhlukaneni kweseli esishiya amangqamuzana omzimba ngokusebenza okulodwa kuphela kwe-X chromosome. Ngokujwayelekile, ukungajwayelekile sekukhona kakade ekukhuliseni, okuvela emdlelwaneni noma eqanda. Esikhathini esibizwa ngokuthi i-Mosaic Turner syndrome, okusho ukuthi amanye amangqamuzana omzimba anesi-X esibucayi kanti amanye anama-chromosomes avamile, imbangela yiphutha ekuhlukaneni kweseli ngesikhathi sokuthuthukiswa kokuqala kwe-embryonic. Akekho owazi kahle ukuthi yini ebangela amaphutha okuhlukaniswa kwamaseli.
Ukuxilongwa
I-Turner Syndrome ingabonakaliswa njengesizathu sokukhulelwa kwesisu noma ukubeletha lapho abazali bephishekela ukuhlolwa kwe-chromosomal emva kokulahlekelwa kokukhulelwa.
Ekukhulelwe kwamanje, i-ultrasound ingabonisa izimpawu zesimo, kodwa ukuxilongwa kungaqinisekiswa kuphela ngokuhlolwa kofuzo njenge- amniocentesis noma i-CVS. Futhi kube khona imibiko yamaphutha amanga ngesimo, ngisho ne-amniocentesis. Ezinganeni ezisanda kuzalwa, ukuxilongwa kungaqinisekiswa ngokuhlolwa kwegazi.
Ngisho noma ingozi enkulu yokukhulelwa kwesisu ingase ibe yinto esabekayo, abacwaningi bakholelwa ukuthi iningi lalabo abahlukumezekile abahlobene ne-Turner syndrome livela ku-trimester yokuqala. Ngesikhathi ingane isifinyelele iphuzu lokufanelekela i-amniocentesis, izinkinga zokulahlekelwa kokukhulelwa azicishe zidangele. Ucwaningo olulodwa lathola ukuthi izingane ezingu-91% ezixilongwa nge-amniocentesis zasinda lapho zizalwa. Kungaba ukungaqapheli ukuzwa ukuthi ingane yakho ine-disorder ye-chromosome, ngakho-ke kuwumqondo omuhle ukuxhumana namaqembu okusekela noma umeluleki wezakhi zofuzo ukulungiselela.
Isibikezelo
Naphezu kwenengozi enkulu yokukhulelwa kwesisu nokubeletha, ukuchazwa okuphelele kwengane ene-Turner syndrome akuyona into ebuhlungu ngemva kokuzalwa. Kunezinye izinkinga zempilo ezivamile kanye nezici zomzimba, kepha amantombazane ane-Turner syndrome avame ukuba nokuhlakanipha okuvamile ngaphandle kokukhubazeka kokuphila futhi kungabangela ukuphila okujabulisayo okuphilile. Abaningi abakutholi ngisho nokuthi banenkinga yabo kuze kube yilapho bekhulile.
Indima yeGenestics kuPhumela
Uma ulahlekelwe ingane ene-Turner syndrome, akungabazeki ukuthi udidekile ukuzwa zonke izindaba zabesifazane abaphila ne-Turner syndrome ngakolunye uhlangothi, futhi ngakolunye uhlangothi, udokotela wakho akutshele ukuthi i-Turner syndrome ibangele ukukhulelwa kwesisu noma ukubeletha.
Iqiniso liwukuthi odokotela abaqiniseki ngokuphelele ukuthi kungani izingane eziningi ezine-Turner syndrome ziphuthelwa kabi kanti abanye bakwenza ngokukhulelwa ngaphandle kwezinkinga ezinkulu.
Incazelo eningi kakhulu ukuthi kukhona isici sezakhi zofuzo ekudlalweni. Kungenzeka ukuthi iningi lezingane ezikhulelwe nge-Turner syndrome zilahlekile izakhi ezidingekayo empilweni, kanti labo abasinda banesisindo esiphelele sezakhi zofuzo, naphezu kokuba ne-X kuphela ye-chromosome eyodwa. Abanye abacwaningi baye baveza ukuthi abantwana abasinda ekukhulelweni nge-Turner syndrome bangase babe nezinga elithile lokubonisa ubuciko, okungenani ngesikhathi sokukhulelwa, okubenza bakwazi ukuqhubeka bekhula futhi bekhula.
Kungakhathaliseki incazelo, uma ulahlekelwe ingane ene-Turner syndrome ekukhulelweni kwesisu noma ekubelethweni, kuvamile futhi kulungile ukulila. Izinkinga zingaphansi kwesimo esiphindelayo esikhathini esizayo sokukhulelwa, kepha umeluleki wezakhi zofuzo kufanele akwazi ukukunika ulwazi oluthe xaxa mayelana nanoma yikuphi ukukhathazeka ongase ube nakho uma uhlela ukuzama futhi.
Imithombo:
I-Gravholt, CH et al. "Ukusabalala kokubeletha nokubeletha kokubeletha kwe-Turner's Syndrome: Isifundo se-Registry." BMJ 1996; 312: 16-21.
Iphethwe, i-KR et al. "I-Mosaicism ineminyaka engu-45, i-X Turner Syndrome: Ingabe Ukusinda Ekukhulelweni Okuqala Kuxhomeke Ekukhoneni Kwama-Chromosomes Amabili Obulili?" I- Human Genetics 1992. 88 (3): 288-294.
USaenger, uPaul. "I-Turner's Syndrome." NEJM 1996. 335: 1749-1754.
Uematsu, A. et al. Umsuka wabazali bama-Chromosomes ajwayelekile we-X ku-Turner Syndrome Iziguli ezine-Karyotypes ehlukahlukene. " I-American Journal of Medical Genetics May 2002 111 (2): 134-139.