I-Down syndrome yiyona engavamile kakhulu ye-chromosome yokuzalwa engavamile kubantu, kodwa bewazi ukuthi cishe noma yiyiphi yama-23 we-chromosomes angabonakala ifomu le-trisomic? Yize noma yikuphi i-chromosome ingenzeka ngesimo se-trisomic, ambalwa kakhulu ama-trismi ahambisana nokuphila.
Ama-Chromosomes nokuHlangana
Ama-anomalies we-Chromosomal ayaziwa ukuthi iyimbangela eyodwa ejwayelekile yokuhlukumeza.
Kukholelwa ukuthi ingxenye engaphezu kwengxenye yazo zonke izimo eziphuthumayo zingabangelwa ukungahleleki kwe-chromosomal. Eqinisweni, cishe amaphesenti angama-60 alawa angenxa ye-trisomies futhi amanye amaphesenti angu-20 atholakale engekho i-chromosome yobulili. Enye inkinga evamile ye-chromosomal eholele ekutheni ukuphuma kwesisu kungukuthi i-triploidy. Ngo-triploidy, i-fetus ithola isethi esengeziwe yama-chromosomes. Ngenkathi i-Down syndrome yi-trisomy evame kakhulu ebantwaneni abasha, nayo ibeka ingozi enkulu yokukhulelwa kwesisu.
I-Trisomy 18 (i-Edwards syndrome)
I-Trisomy 18 ivela cishe ku-1 ku-6,000 ukuzalwa okuphilayo. okwenza kube cishe izikhathi eziyishumi kune-Down syndrome. Amacala amaningi we-trisomy 18 abangelwa inombolo ye-chromosome engu-18. Amaphesenti angu-5 asele angenxa yokudluliselwa okubandakanya i-chromosome 18.
Ngeshwa, izingane ezine-trisomy 18 zineziphene ezinzima zokubeletha ngokomzimba. Iningi lezinsana ezine-trisomy 18 ziyoba nenhlobo ethile yokukhubazeka kwenhliziyo, futhi abaningi bangase babe nezinkinga zezinso, kanye nemiphunga ye-lung ne-diaphragm.
Ngenxa yokukhubazeka okunzima ngokomzimba, izinsana eziningi ezine-trisomy 18 zizofa ezinsukwini zokuqala zokuphila. Lezo zinsana ezisinda zinezinkinga ezinkulu ezingqondweni. Abaningi abasinda ngaphesheya kwezinyanga ezimbalwa zokuqala zokuphila, kodwa ezinye izingane ziphila kuze kube yilapho sezikhulile.
I-Trisomy 13 (i-Patau syndrome)
I-Trisomy 13 (i-Patau syndrome) yinto engavamile kakhulu ye-autosomal engavamile phakathi kwezinsana, kulandela i-Down syndrome (i-trisomy 21) ne-Edwards syndrome (i-trisomy 18).
Amacala amaningi avela ku-trisomy esiphelele 13 enesilinganiso esincane kakhulu se-trisomy 13 esibangelwa ukukhonjiswa nokudluliselwa .
Izingane ezine-trisomy 13 zingaba nomlomo womlomo womlomo nezindwangu, iminwe eyengeziwe kanye nezinzwane, izitho zangaphakathi ezingalungile nezijikelezayo, ukukhubazeka okukhulu kwenhliziyo, kanye nokungaqondakali okukhulu kobuchopho. Ngenxa yobuthakathaka beziphambeko zabo zomzimba, iningi lezingane ezizalwa nge-trisomy 13, lifa ngenyanga yokuqala.
47, i-XXY Syndrome (i-Klinefelter syndrome)
I-Klinefelter syndrome, 47, i-XXY, noma i-XXY syndrome, yisimo esibangelwa i-chromosome eyengeziwe ye-X. Abantu abathintekile banezakhi ezimbili ze-chromosomes ne-Y eyodwa ye-chromosome. Abantu abaningi abazi ukuthi bane-Klinefelter syndrome njengoba umehluko ngenxa yokuba ne-X chromosome eyengeziwe ayisobala futhi ngokuvamile ayifuni.
Izinkinga eziyinhloko ezitholakala ku-Klinefelter syndrome yizicathulo ezincane kanye nokuzala okuncishisiwe. Ukuhlukahluka okuhlukile kokuziphatha nokuziphatha okuvamile; Nokho, ubukhulu balezi zimpawu zingahlukahluka komuntu ngamunye.
47, ama-XYY Amadoda
Abanye abafana bazalwa nge-Y chromosome eyengeziwe futhi banama-47, i-XYY karyotype. Ngokuvamile, le chromosome Y eyengeziwe ayibangeli izici zomzimba ezingavamile noma izinkinga zezokwelapha.
Abesilisa abanama-47, i-XYY syndrome ngezinye izikhathi bangase bade kakhulu kunezilinganiso futhi bangase babe nengozi eyengeziwe yokufunda ukukhubazeka kanye nokulibazisa inkulumo namakhono olimi. Ukubambezeleka kokuthuthukiswa kanye nezinkinga zokuziphatha nakho kungenzeka, kepha lezi zimpawu ziyahlukahluka phakathi kwabafana nabesilisa abathintekayo. Abesilisa abaningi abanama-47, i-XYY syndrome banokuthuthukiswa kocansi okujwayelekile futhi bayakwazi ukukhulelwa izingane.
47, XXX (i-Triplo-X, i-Trisomy X, ne-XXX Syndrome)
Amanye amantombazane azalwa ane-X syndrome. I-syndrome ye-Triple ngokuvamile ayinayo izici zomzimba ezihambisanayo noma izinkinga zezokwelapha. Ingxenye encane yabesifazane abanesimo singase sibe nokungahleleki kokuya esikhathini kanye nokukhubazeka kokufunda, inkulumo ephuzile, kanye namakhono amakhono akwehliswayo.
Kodwa-ke, abantu abaningi abane-47, syndrome ye-XXX banokuthuthukiswa ngokomzimba nangokwenyama ngokuphelele.
Ama-Trisomie Okungenzeka Kungabangela Ukukhipha Isisu
I-Trisomy 15. I- Trisomy 15 ayivamile. Iningi lokukhulelwa nge-trisomy 15 liphela ekukhulelweni kwesisu kwangaphambili. Ekukhulelwe okuye kwaqhubekela phambili, i-fetus ivame ukukhubazeka kwezici zabo zobuso nezandla, izandla nezinyawo, nokulibaziseka kokukhula. I-Trisomy 15 ixhunywe ku- Prader-Willi syndrome .
I-Trisomy 16. I- Trisomy 16 yi-trisomy ejwayelekile kakhulu ye-autosomal ebonakala ekutheni i-miscarriages kanye nama-akhawunti okungenani amaphesenti angu-15 wokuhlukana kokuqala kwe-trimester. Amathumbu amaningi ane-trisomy 16 alahlekile azungeze amasonto angu-12 nakuba amaphesenti amancane angase alahleke ku-trimester yesibili. Amantombazane ambalwa ane-trisomy mosai 16 asinda kuze kube sekuzalweni. Eziningi zalezi zinsana zinehluleka ukukhula, izinkinga ze-psychomotor, futhi ziyafa zisencane.
I-Trisomy 22. Ukuqedela i-trisomy 22 yimbangela yesibili evame kakhulu ye-chromosomal yezinsizakalo. Ukusinda ngaphesheya kwe-trimester yokuqala yokukhulelwa kuyinto engavamile. Ukuphelisa i-trisomy 22 akuvamile kakhulu. Amantombazane amaningi ane-trisomy ephelele 22 efa ngaphambi noma ngemva nje kokuzalwa ngenxa yokukhubazeka okubuhlungu.
> Imithombo:
> Hay, William W., Deterding, uRobin R., Levin, Myron J., Sondheimer, Judith M., Ukuhlolwa Kwamanje Kwamaphilisi Nokunakekelwa, I-McGraw-Hill Companies, Inc. Ukushicilela Okweshumi Nanye. 2007.
> Nelson-Anderson, D., Water, C., Genetic Connection Umhlahlandlela Wokubhala Umlando Wempilo Yomuntu Nomndeni > Sonters > Ukushicilelwa, ka-1995.