I-Turner syndrome (i-Monosomy X) kunye nokulahleka kokukhulelwa kudla ukuxhamla. I-Turner syndrome yinkinga ye-chromosome apho intombazana okanye ibhinqa ine-X kuphela ye-chromosome epheleleyo. (Ngenxa yokuba i-Y chromosome iyadingeka ukuba umntu abe yindoda, zonke iintsana ezine-Turner syndrome zingamantombazana.) Nangona amantombazana azalwa nge-Turner syndrome ahlala enokubaluleka kokuphila okuqhelekileyo, uninzi lweintsana ezinaloo mqathango zilahlekile ukuba ziphule kuzalwa .
Ukukhula
Malunga ne-1 kuzo zonke iintsana eziyi-1,500 ukuya ku-2 500 eziza kuzalwa zine-Turner syndrome. Nangona kunjalo ngokucwaninga, i-monosomy X ikhoyo malunga neepesenti ezingama-3 yazo zonke iimbono, kodwa malunga nama-99 ekhulwini kwiintsana ezichaphazelekayo zilahlekile okanye zizalwe. Le meko icatshangelwa ukuba yinto ebalulekileyo malunga neepesenti ezili-15 zazo zonke izifo ezilahlekileyo.
Izizathu
Isizathu se-Turner syndrome yiphutha kwisahlulo seseli eshiya iiseli zomzimba zodwa kuphela zisebenza kakuhle X i-chromosome. Ngokuqhelekileyo, ukungaqhelekanga kusele kukho ukuchumisa, okuvela kwidoda okanye iqanda. Kwimeko ebizwa ngokuba yi-Mosaic Turner syndrome, oku kuthetha ukuba ezinye iiseli zomzimba zine-X ososomi xa ezinye zihlala zine-chromosomes eziqhelekileyo, imbangela yiphutha kwisahlulo seseli ngexesha lokukhula kwangaphambili kwe-embryonic. Akukho mntu owaziyo ngokuchanekileyo oko kubangele ezi mpazamo zecandelo lesahlulo.
Ukuxilongwa
I-Turner Syndrome ingabonakaliswa njengesizathu sokusweleka kwesisu okanye ukubeletha xa abazali beqhuba ukuvavanya kwe- chromosomal emva kokulahleka kokukhulelwa.
Ngokukhulelwa kwangoku, i-ultrasound ingabonakalisa amanqaku kumqathango, kodwa ukuxilongwa kungaqinisekiswa kuphela ngokuvavanya i-genetic njenge- amniocentesis okanye i-CVS. Kwaye kukho iingxelo zeempembelelo ezingamanga kwimeko, kwano-amniocentesis. Kwiintsana ezisandul 'ukuzalwa, ukuxilongwa kungaqinisekiswa ngokuhlolwa kwegazi.
Nangona umngcipheko ophezulu wokukhulelwa kwesisu kungavakala ukuba uyatshitshisa, abaphandi bakholelwa ukuba uninzi lwezinto ezilahlekileyo ezihlobene ne-Turner syndrome zenzeka kwi-trimester yokuqala. Ngethuba ixesha umntwana sele afikelele kwindawo yokufumana i-amniocentesis, iingxaki zokulahlekelwa kokukhulelwa azikho nje ngokugqithiseleyo. Olunye uphando lufumene ukuba i-91% yabantwana abaxilongwa nge-amniocentesis basinda ekuzalweni. Kungenakukhuphaza ukuba ufunde ukuba umntwana wakho unengxaki ye-chromosome, nangona kunjalo, yinto efanelekileyo ukufikelela kumacandelo enkxaso okanye umcebisi wezofuzo ukulungiselela.
Prognosis
Nangona ubungozi obuphezulu bokuphuphuma kwesisu nokusabalalisa, ukuhlaselwa kwintsholongwane yintsana ne-Turner syndrome ayibuhlungu emva kokuzalwa. Kukho iingxaki zempilo eziqhelekileyo kunye neempawu zomzimba, kodwa iintombazana ezine-Turner syndrome zihlala zineengqondo eziqhelekileyo ngaphandle kokukhubazeka kokuphila kwaye zingakhokelela ubomi obonwabileyo. Abaninzi abafumananga ukuba banenkathazo baze babe ngabantu abadala.
Indima yeGenetics kwisiPhumo
Ukuba ulahlekelwe ngumntwana nge-Turner syndrome, akungabazeki ukudideka ukuva onke amabali abafazi abahlala ne-Turner syndrome ngakwesinye icala, ngoko ke, ngogqirha wakho akuxelele ukuba i-Turner syndrome yabangela ukukhulelwa komzimba okanye kuzalwa.
Inyani yinto yokuba oogqirha abaqinisekanga ukuba kutheni abaninzi abantwana abane-Turner syndrome baxakekile xa abanye bekwenza ngokukhulelwa ngaphandle kweengxaki ezinkulu.
Ingcaciso enkulu kukuba kukho imfuza yokudlala. Kungenzeka ukuba ininzi yeentsana ezikhulelwe nge-Turner syndrome zilahleka izidalwa ezifunekayo ebomini, kanti abo basinda banalo iifayile ezipheleleyo, nangona bane-X kuphela ye-chromosome. Abanye abaphandi baye bathi iintsana eziphila ngokukhulelwa nge-Turner syndrome zinokuthi zinezinga elithile lokubonakalisa imifanekiso, ubuncinci ngexesha lokukhulelwa kwangaphambili, okubenza bakwazi ukuqhubeka bekhula bekhula.
Kungakhathaliseki ukuba yintoni inkcazo, ukuba ulahlekelwe ngumntwana kunye ne-Turner syndrome ukusalela okanye ukuzala, kuyaqhelekile kwaye kukulungele ukulila. Iingxaki ziphantsi kwimeko eqhubekayo ekukhulelweni kwangaphambili, kodwa umcebisi wezofuzo kufuneka akwazi ukunika ulwazi olungakumbi malunga naluphi na ukukhathazeka onokuyenza xa uceba ukuzama kwakhona.
Imithombo:
Gravholt, CH et al. Ukusabalala kwangaphambi kokubeleka kunye nokubeleka kwe-Turner's Syndrome: IsiFundo seRejista. " BMJ 1996; 312: 16-21.
Iphethwe, iKR et al. "I-Mosaicism ngo-45, i-X Turner Syndrome: Ngaba ukusinda kwi-Early pregnancy inxhomekeke kwi-Chromosomes yoBafana ababini?" I-Genetic Human 1992. 88 (3): 288-294.
USaenger, uPawulos. "I-Turner's Syndrome." NEJM 1996. 335: 1749-1754.
Uematsu, A. et al. Imvelaphi yabazali be-Chromosomes eziqhelekileyo ze-X kwi-Turner Syndrome Izigulane ezineeKaryotypes ezahlukeneyo. I-American Journal ye-Medical Genetics Meyi 2002 111 (2): 134-139.