Triploidy

Ngokudabukisayo, le disorder chromosomal disorder ayikho unyango

Izifo ze-Genetic kunye ne- chromosomal zingaba nefuthe elinefuthe elide kunye nefuthe elibonakalayo kwimpilo yengane. Imiphumo ingaba nantoni na kwiinkxalabo zempilo ezinzima ukuba "ingavumelani nobomi," okubhekiselele ekuhlaseleni kokufa.

I-Triploidy yintlupheko ewela ekupheleni kwesiganeko. Uninzi lwabazali abathandwayo be-triploidy bafa ngaphambi kokuba bazalwe kwaye abo bawenza ukuba bangabikho kwixesha eliqhelekileyo basinde kwiinyanga ezintandathu zokuqala zobomi.

Yiyiphi indlela yohambo lweNdwendwe

Abantu ngabanye bafanele ukuba nama-chromosomes angama-46 (iimbini ezingama-23). Umntu ufumana isiqingatha seqela le-chromosomes nganye kumzali ngamnye. I-Triploidy ithetha ukuba umntwana unamakhophi amathathu e-chromosome nganye kwiselinye ngasinye, kunokubini, ukwenza ama-chromosomes angama-69. I-Triploidy inokubangela ukuba ivela kwiqanda elilodwa lizaliswe ngamabini amabini okanye kwiiphene kwisahlulo seseli esenza ukuba iqanda okanye isidoda sibe nama-chromosomes angama-46 ngexesha lokuchumisa.

Iintlobo

Uninzi lweziganeko ze-triploidy ziquka "ukuzalisa" i-triploidy, oku kuthetha ukuba zonke iiseli zomzimba zichaphazeleka ngokufanayo. Kwiimeko ezinqabileyo, i-triploidy inokuthi "i-mosaic," oku kuthetha ukuba ezinye iiseli zomzimba zineekopi ezintathu zechromosome nganye kwaye ezinye zikhethwe ngama-chromosomes angama-46. Kukho ubungqina bokuba abantu abanokuhamba ngeendlela ezihamba phambili bangabinokuchaphazeleka kancinci ngentsholongwane kunabo bahamba nge-triploidy epheleleyo. Kodwa nangona i-triploidy yomfanekiso, ukuxela kwangaphambili akulungile.

Ubudlelwane noKhulelwa koMzimba oKhethekileyo

Okunye ukukhulelwa okuchaphazelekayo nge-triploidy kuya kuchatshazelwa yinkompo ye-hydatidiform ye-parti (ukukhulelwa kwe-molar partially ), oku kuthetha ukuba i-placenta engavumelekanga enokubangela ukuba unina unxungupheko lobomi. Nangona kunjalo, akuyiyo yonke imeko ye triploidy iya kuba ukukhulelwa kwe-molar.

Kukho ukukrokra ukuba i-triploidy ephuma kumabini amabini atyalela iqanda elilodwa lingaba lula ukukhulelwa kwe-molar kune-triploidy ebandakanya iqanda okanye i-sperm enama-chromosomes angama-46 ukususela ekuqaleni. Kodwa oku akuzange kuboniswe.

Ukuxilongwa

Uhambo lwe-Triploidy lunokufunyanwa ngovavanyo kuphela lwe-genetic-lithetha i- amniocentesis , ukuvavanywa kwegazi kwintsana esanda kuzalwa, okanye i-karyotyping yeethambo ezivela ekulahlekeni kokukhulelwa. Uvavanyo lwe-screening ezifana ne- ultrasound kunye ne- alphafetoprotein ukuvavanya lunokubonisa iimpawu zokulumkisa ze-triploidy. Kodwa le mvavanyo ayikwazi ukuqinisekisa ukuxilongwa kwe triploidy. Amanqanaba e-hCG aphezulu angabonakaliyo xa ekhulelwe nge-triploidy, kwaye i-ultrasound ingabonisa i-placenta ephawulekayo ehambelana nokukhulelwa kwe-molar.

Prognosis

Ngokudabukisayo, i-triploidy ihlala ibulalayo kwaye akukho nonyango okanye unyango lwemo. Njengoko kuchaziwe ngentla, phantse bonke (ngaphezu kwe-99%) yabantwana abane-triploidy baxakile okanye bazalwe. Kulabo bazalwa bephila, abaninzi bafa ngeeyure okanye iintsuku emva kokuzalwa. Iintsana ezincinci ezinama-triploidy ziye zahlala kwiinyanga ezintlanu okanye ngaphezulu. Kodwa ezi ngxelo aziqabile, kwaye ngokuqhelekileyo, iintsana eziphila ixesha elide zihamba nge-triploidy yomzi, kunokuba zihlale zijikeleza.

Iintsana ezichaphazelekayo zineempembelelo ezininzi zokuzalwa kunye nomqobo wokukhula.

Ingozi yokuphindaphinda

Abaphandi abafumananga nayiphi na ingozi ebonakalayo yokukhulelwa okuchaphazelekayo nge-triploidy. Nangona ubudala bomama abubonakali kuyingozi. Inani elincinci labasetyhini linakho ukulahlekelwa ngamathambo angaphinda ahlaselwe yi-triploidy. Kodwa kwiimeko ezininzi, i-triploidy ivela ngokungaqhelekanga kwaye yintlekele yexesha elilodwa elingaphinda likhulelwe kwixesha elizayo. Ukuba ufumene i-triploidy diagnostic emva kokuvavanywa kwezicubu ukusuka ekuphumuleni okanye ukuzalwa komzimba, iziganeko zokuthi zenzeke kwakhona zincinci.

Ukuba Umntwana Wakho Unayo I-triploidy

Ingcaciso eninzi yokudideka malunga ne-triploidy ikhona, ngoko ke ukuba umntwana wakho ufumene ukuba le meko ngexesha lokukhulelwa okanye nje usana olusanda kuzalwa, mhlawumbi ubhukuda kunye neemvakalelo, kubandakanya ukuphazamiseka, ukudideka, nentlungu. Into yokuqala okufuneka ukwazi ukuba awuzange wenze nantoni na ukuba kubangele ukuba kwenzeke oku, kwaye akukho nto enokuyithintela ukuba ingenzeki. Kulungile ukulila (okanye ukuva nantoni na into onokuvakalelwa ngayo).

Ukuba umntwana wakho ufumene ukuba uhambo lwe-triploidy nge-amniocentesis (edlalwa rhoqo phakathi kweveki 15 neveki 20 yokukhulelwa), mhlawumbi uya kubuzwa ukuba unqwenela ukuqhubeka nokukhulelwa. Lo lukhetho olukhethekileyo kwaye kufuneka wenze okukusebenzayo. Amanye amabhinqa anqwenela ukuphelisa ukukhulelwa okunokubulawa kwezifo , kanti abanye bakhetha ukuqhubeka nokukhulelwa, nangona baqonda iziphumo ezilindelekileyo. (Qaphela ukuba ukukhulelwa kwakho kuchaphazelekayo yi- molecule ye-hydatidiform , ayikho ithuba lokuba umntwana ayenze ekupheleni kwaye azalwe ephilileyo. Ugqirha wakho uya kuncomela ukuphelisa ukukhusela iingxaki ezinokuthi zichaphazele impilo yakho.)

Ukuba i-triploidy diagnostic ivela emva kokuba umntwana wakho sele ezalwe, yinto efanelekileyo yokuthetha nomcebisi wezofuzo malunga noko kufuneka ukulindele, ngokunyamekela umntwana wakho. Uninzi lwexesha, unyango olucetyiswayo kukubonelela ngononophelo kunokuba ulandele naluphi na uncedo olunzulu. Kukho amaqela amaninzi enkxaso kubazali beintsana abaneengxaki ezinzulu ze-chromosomal, kwaye unokufumana ukuba uyathuthuzela njengoko uhlangabezana nale ndaba.

Imithombo:

I-Brancati F, iMingarelli R, i-Dallapiccola B. I-triploidy ephindaphindiweyo yemvelaphi yomama. Eur J Hum Genet 2003; 11: 972-974.

Triploidy. I-Texas State Dept yeSebe lezeMpilo. http://www.dshs.state.tx.us/birthdefects/risk/risk24-triploidy.shtm