Uvavanyo lwe-Karyotype Genetic

Umxholo

• Yintoni uvavanyo lwekaryotype?
• Isetyenziselwa ntoni?
• Kutheni ndifuna uvavanyo lwekaryotype?
• Kwenzeka ntoni ngexesha lovavanyo lwekaryotype?
• Ngaba kuya kufuneka ndenze nantoni na ukulungiselela uvavanyo?
• Ngaba bukhona ubungozi kuvavanyo?
• Zithetha ntoni iziphumo?
• Ngaba ikhona enye into endifuna ukuyazi malunga novavanyo lwekaryotype?
• Izalathiso

Yintoni uvavanyo lwekaryotype?

Uvavanyo lwekaryotype lujonga ubungakanani, imilo, kunye nenombolo yeekromosomes zakho. IiChromosomes ngamalungu eeseli zakho aqukethe imfuza yakho. Imfuza ngamalungu e-DNA agqithiselwe kumama notata wakho. Baphethe ulwazi olumisela iimpawu zakho ezizodwa, ezinjengokuphakama nombala wamehlo.

Ngokwesiqhelo abantu banee-chromosomes ezingama-46, zahlulwe zangama-23 amabini, kwiseli nganye. Isibini esinye seekromosomes sivela kunyoko, kwaye esinye isibini sivela kuyihlo.

Ukuba unama-chromosomes angaphezulu okanye ambalwa kunama-46, okanye ukuba kukho nantoni na engaqhelekanga malunga nobukhulu okanye ukumila kwee-chromosomes zakho, oko kunokuthetha ukuba unesifo semfuza. Uvavanyo lwekaryotype luhlala lusetyenziselwa ukunceda ukufumana iziphene zemfuza kusana olusakhulayo.

Amanye amagama: ukuvavanywa kwemfuza, ukuvavanywa kwe-chromosome, izifundo ze-chromosome, uhlalutyo lwe-cytogenetic

Isetyenziselwa ntoni?

Uvavanyo lwekaryotype lunokusetyenziselwa:

• Jonga umntwana ongekazalwa ukuphazamiseka kwemfuza
• Ukuchonga isifo semfuza kusana okanye kumntwana omncinci
• Fumanisa ukuba isiphako se-chromosomal sithintela umfazi ekukhulelweni okanye kubangela ukuphuphuma kwesisu
• Jonga usana oluswelekileyo (usana olusweleke emva kwexesha lokukhulelwa okanye ngexesha lokuzalwa) ukubona ukuba isiphako se-chromosomal sisizathu sokufa
• Jonga ukuba unesifo semfuza esinokudluliselwa kubantwana bakho
• Ukuchonga okanye ukwenza isicwangciso sonyango kwiintlobo ezithile zomhlaza kunye nokuphazamiseka kwegazi

Kutheni ndifuna uvavanyo lwekaryotype?

Ukuba ukhulelwe, unokufuna ukufumana uvavanyo lwekaryotype kusana lwakho olungekazalwa ukuba unezinto ezithile ezinobungozi. Oku kubandakanya:

• Iminyaka yakho. Umngcipheko opheleleyo wokukhubazeka kokuzalwa kwemfuza kuncinci, kodwa umngcipheko uphezulu kwabasetyhini abanabantwana abaneminyaka engama-35 okanye ngaphezulu.
• Imbali yosapho. Umngcipheko wakho uyonyuka ukuba wena, iqabane lakho, kunye / okanye omnye wabantwana bakho unesifo semfuza.

Usana lwakho okanye umntwana omncinci unokufuna uvavanyo ukuba uneempawu zesifo semfuza. Zininzi iintlobo zokuphazamiseka kwemfuzo, nganye ineempawu ezahlukeneyo. Wena kunye nomboneleli wakho wezempilo ninokuthetha malunga nokuba ngaba uvavanyo luyacetyiswa.

Ukuba ungumfazi, unokufuna uvavanyo lwe-karyotype ukuba unengxaki yokukhulelwa okanye unezisu ezininzi. Ngelixa ukuphuphuma kwesisu kungaqhelekanga, ukuba ubunezinto ezininzi, kusenokwenzeka ngenxa yengxaki ye-chromosomal.

Unokufuna uvavanyo lwe-karyotype ukuba uneempawu okanye ufumene ukuba une-leukemia, i-lymphoma, okanye i-myeloma, okanye uhlobo oluthile lwe-anemia. Ezi ngxaki zinokubangela utshintsho lwe-chromosomal. Ukufumana olu tshintsho kunokunceda umboneleli wakho afumanise, abeke iliso, kunye / okanye anyange isifo.

Kwenzeka ntoni ngexesha lovavanyo lwekaryotype?

Kuvavanyo lwekaryotype, umboneleli wakho uya kufuna ukuthatha isampulu yeeseli zakho. Ezona ndlela zixhaphakileyo zokufumana isampulu zibandakanya:

• Uvavanyo lwegazi. Kolu vavanyo, ingcali yokhathalelo lwempilo iya kuthatha isampulu yegazi kumthambo engalweni yakho, usebenzisa inaliti encinci. Emva kokuba inaliti ifakiwe, inani elincinci legazi liya kuqokelelwa kwityhubhu yovavanyo okanye igutyana. Unokuziva uluma kancinci xa inaliti ingena okanye iphuma. Oku kuhlala kuthatha imizuzu engaphantsi kwesihlanu.
• Ukuvavanywa ngaphambi kokubeleka nge-amniocentesis okanye isampulu ye-chorionic villus (CVS). I-chorionic villi kukukhula okuncinci okufumaneka kwi-placenta.

Kwi-amniocentesis:

• Uya kulala ngomqolo kwitafile yeemviwo.
• Umboneleli wakho uya kususa isixhobo se-ultrasound ngaphezulu kwesisu sakho. I-Ultrasound isebenzisa amaza esandi ukujonga indawo yesibeleko sakho, iplacenta, kunye nosana.
• Umboneleli wakho uya kufaka inaliti encinci esiswini sakho kwaye urhoxe inani elincinci le-amniotic fluid.

I-Amniocentesis ihlala yenziwa phakathi kweveki ye-15 ukuya kwe-20 yokukhulelwa.

KwiiCVS:

• Uya kulala ngomqolo kwitafile yeemviwo.
• Umboneleli wakho uya kuhambisa isixhobo se-ultrasound ngaphezulu kwesisu sakho ukujonga indawo yesibeleko sakho, iplacenta, kunye nosana.
• Umboneleli wakho uya kuqokelela iiseli kwi-placenta ngenye yeendlela ezimbini: nokuba ngumlomo wesibeleko ngombhobho omncinci obizwa ngokuba yi-catheter, okanye ngenaliti encinci kwisisu sakho.

I-CVS ihlala isenziwa phakathi kweveki ye-10 neye-13 yokukhulelwa.

I-Bone Marrow Aspiration kunye neBiopsy. Ukuba uvavanywa okanye uphathwa ngohlobo oluthile lomhlaza okanye ukuphazamiseka kwegazi, umboneleli wakho unokufuna ukuthatha isampulu yomongo wethambo lakho. Kolu vavanyo:

• Uya kulala ngecala okanye isisu sakho, kuxhomekeke kwiliphi ithambo eliza kusetyenziswa kuvavanyo. Uninzi lweemvavanyo zomongo wethambo zithathwa kwithambo lesinqe.
• Indawo izakucocwa ngesinqanda magciwane.
• Uya kufumana inaliti yesisombululo esindindisholo.
• Nje ukuba le ndawo ibe ndindisholo, umboneleli wezempilo uyakuthatha isampulu.
• Ukulungiselela umongo wethambo, oqhele ukwenziwa kuqala, umboneleli wezempilo uya kufaka inaliti ngethambo kwaye akhuphe umongo wethambo kunye neeseli. Unokuziva ubuhlungu obukrakra kodwa obufutshane xa kufakwa inaliti.
• Ukulungiselela umongo wethambo i-biopsy, umboneleli wezempilo uya kusebenzisa isixhobo esikhethekileyo esiguqukayo sithambo ukuze athathe isampulu yomongo wethambo. Unokuziva uxinzelelo kwisiza ngelixa isampulu ithathwa.

Ngaba kuya kufuneka ndenze nantoni na ukulungiselela uvavanyo?

Awudingi naluphi na ulungiselelo olukhethekileyo lovavanyo lwekaryotype.

Ngaba bukhona ubungozi kuvavanyo?

Mncinci kakhulu umngcipheko wokuvavanywa kwegazi. Unokuba nentlungu encinci okanye ukrakra kwindawo apho inaliti yafakwa khona, kodwa uninzi lweempawu zihamba ngokukhawuleza.

Uvavanyo lwe-Amniocentesis kunye neCVS zihlala zikhuselekile, kodwa zinomngcipheko omncinci wokubangela ukukhutshwa kwesisu. Thetha nomboneleli wakho wezempilo malunga nobungozi kunye nezibonelelo zolu vavanyo.

Emva kovavanyo lomongo wethambo kunye novavanyo lwe-biopsy, unokuziva uqinile okanye ubuhlungu kwindawo yenaliti. Oku kuhlala kuhamba kwiintsuku ezimbalwa. Umboneleli wakho wokhathalelo lwempilo unokucebisa okanye ukumisela umntu ophelisa iintlungu ukuba akuncede.

Zithetha ntoni iziphumo?

Ukuba iziphumo zakho bezingaqhelekanga (aziqhelekanga,) kuthetha ukuba wena okanye umntwana wakho unama-chromosomes angaphezulu okanye angaphantsi kwama-46, okanye kukho into engaqhelekanga malunga nobukhulu, imilo, okanye ulwakhiwo lweekromosomes zakho nangaphezulu. Ii-chromosomes ezingaqhelekanga zinokubangela iingxaki zempilo ezahlukeneyo. Iimpawu kunye nobukrakra buxhomekeke ekubeni zeziphi ii-chromosomes ezichaphazelekayo.

Ezinye iingxaki ezibangelwa ziziphene ze-chromosomal zibandakanya:

• Isifo esiphantsi, Ukuphazamiseka okubangela ukukhubazeka kwengqondo kunye nokulibaziseka kophuhliso
• Isifo sikaEdward, Ukuphazamiseka okubangela iingxaki ezinzima entliziyweni, emiphungeni nasezintso
• I-Turner syndrome, Ukuphazamiseka kumantombazana okuchaphazela ukukhula kweempawu zabasetyhini

Ukuba uvavanyiwe kuba unohlobo oluthile lomhlaza okanye ukuphazamiseka kwegazi, iziphumo zakho zingabonisa ukuba imeko yakho ibangelwa sisiphene se-chromosomal. Ezi ziphumo zinokunceda umboneleli wakho wokhathalelo lwempilo akwenzele esona sicwangciso sonyango silungileyo kuwe.

Funda ngakumbi malunga novavanyo lwelabhoratri, uluhlu lweereferensi, kunye neziphumo zokuqonda.

Ngaba ikhona enye into endifuna ukuyazi malunga novavanyo lwekaryotype?

Ukuba ucinga ngokuvavanywa okanye ufumene iziphumo ezingaqhelekanga kuvavanyo lwakho lwekaryotype, kunokuba luncedo ukuthetha nomcebisi ngemfuzo.Umcebisi ngemfuzo yingcali eqeqeshwe ngokukodwa kwimfuzo novavanyo lwemfuzo. Unokuchaza ukuba zithini na iziphumo zakho, akukhokele kwiinkonzo zenkxaso, kwaye akuncede wenze izigqibo ezizizo malunga nempilo yakho okanye impilo yomntwana wakho.

Izalathiso

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Ulwazi olukule ndawo akufuneki lusetyenziswe endaweni yonyango okanye iingcebiso. Nxibelelana nomboneleli wezempilo ukuba unemibuzo malunga nempilo yakho.