I-Trisomy 13, ebizwa nangokuthi i-Patau syndrome, i-defective genetic ehlanganisa i-chromosome 13. Iningi labantu linama-chromosome angu-23, kodwa abantu abane-Patau syndrome banekhophi eyengeziwe ye-chromosome yeshumi nantathu. I-Trisomy 13 yisifo esiyingozi se-genetic syndrome, futhi iningi labantwana abanePatau syndrome bafa ngaphambi kokuzalwa noma ngesonto lokuqala lokuphila.
Kunezinhlobo ezintathu ze-trisomy 13:
- I-trisomy egcwele: Amacala amaningi we-trisomy 13 aphelele ngama-trisomi. Ngama-trismi aphelele, wonke amaseli emzimbeni aqukethe amakhophi amathathu we-chromosome 13.
- I-trisomy ehlukile: Iziguli ezinama-trisomi angenayo ayinakho ikhophi eyengeziwe ye-chromosome 13. Kunalokho, inengxenye eyengeziwe ye-chromosome enamathele kwenye i-chromosome kumaseli awo.
- UMose: Iziguli ezine-trisomy 13 zobuciko zinekhophi eyengeziwe ye-chromosome 13, kodwa kuphela kwamanye amangqamuzana omzimba.
I-Trisomy 13 ivame ukubangelwa iphutha ekuhlukaneni kweseli. Nakuba ingozi yokuba nengane ene-trisomy 13 ingaphezulu kumama omdala, ayizuze ifa futhi ayikwazi ukudluliselwa emindenini. Okuwukuphela kwe-trisomy 13 engaphelele, engayithola njengefa. Noma imuphi umndeni onomlando we-trisomy 13 kufanele ube nokululekwa ngokwezakhi zofuzo.
Izimpawu ze-Patau Syndrome
Ngenxa yokuthi i-chromosome eyengeziwe ikhona kuwo wonke umzimba, i-trisomy 13 ingabangela izinkinga ezinkampanini eziningi zomzimba.
Ezinye izimpawu ze-trisomy 13 zingelashwa ngemithi noma ukuhlinzeka, kodwa ezinye zingenakugula. Izimpawu zihlanganisa:
- Ukuzalwa kwangaphambi kokuqala: I- trisomy eminingi 13 ukukhulelwa kuphelela ekukhulelweni kokubeletha noma ekubelethweni. Izingane ezizalwa ziphila zivame ukuzalwa kusenesikhathi, ngezinga eliphakathi lokugaya amaviki angu-29. Lezi zingane kumele zilwe nezinkinga zokungabi nesikhathi sokuqala kanye nezinye izimpawu ze-trisomy 13.
- Ukukhubazeka ebusweni: Izinsana eziningi ezine-trisomy 13 zizalwa ngomlomo ocacile kanye / noma i-palate. Amehlo angasondelana ndawonye futhi angase ahlangane ndawonye ukuze akhe iso elilodwa. Izinzwa zingaba isethi ephansi, futhi izinkinga zesikhumba esiqongweni se-scalp (cutis aplasia) zivamile.
- Izinkinga zenhliziyo: Ukukhubazeka kwenhliziyo kuvamile ezinganeni ezine-trisomy 13. Izibopho phakathi kwamakamelo enhliziyo (i-ventricular septal defect kanye ne-atrial septal defect) kanye ne-patent ductus arteriosus zingatholakala ku-trisomy 13.
- Izinkinga ebuchosheni: Kwezinye izingane ezine-trisomy 13, ngaphambili kobuchopho abuhlukanisi kahle. Lokhu kubangela izinkinga eziningi zobuso ezihambisana nalesi sifo. Izingane ezinePatau syndrome zinokukhubazeka okukhulu kwengqondo futhi zingase zibe nezigameko.
- Izinkinga zomzimba: Izinkinga ze- GI ezinganeni ezine-trisomy 13 zingabandakanya ama- hernias ombilical kanye nama-hernias angumuthi. I-Omphaloceles, lapho ingxenye yamathumbu ingaphandle komzimba, kwenzeka kwezinye izimo.
- Izinkinga zezinambuzane: Izinsana ezinePatau syndrome zingase zibe neminwe eminye noma izinzwane, zifake izandla, noma zibe nezinyawo ezingezansi.
- Izinkinga zokuphuza: Izinsana ezizalwa nge-trisomy 13 zivame ukukhathazeka ngokuphefumula, noma zibe nezikhathi lapho ziyeka ukuphefumula (i-apnea).
Uvame kangakanani ukuthi izinsana ezine-trisomy 13 ziphile?
I-Trisomy 13 yisifo esibucayi.
Iningi lezinsana ezine-trisomy 13 zifa ngesonto lokuqala, kanti isilinganiso sokuphila siphezu kwezinsuku ezingu-5. Cishe ngo-10% baphila ukuzalwa kwabo kokuqala. Amantombazane anesisindo esiningi uma ezalwa futhi anezinwele zomzimba noma ezithandwayo angase abe namathuba amaningi okusinda.
Nakuba i-trisomy 13 ibhekwa njengesiyaluyalu esibulalayo esingavumelani nokuphila, imithi yesimanje iye yandisa impilo nemfanelo yokuphila yabantwana abathile abane-Patau syndrome. Ngokuya ngobukhulu bezinye izimpawu, ukuhlinzeka kungasiza ukulungisa iziphambeko zenhliziyo noma ze-GI noma ukulungisa umcibisholo. Ukwelashwa okufanelekile kuye kwasiza izingane eziningi nge-trisomy 13 ukuba zijabulise imindeni yabo iminyaka eminingi.
Uma ingane yakho ine-trisomy 13, akudingeki ukuthi ubhekane nale syndrome yedwa. Amaqembu asekela kanye namawebhusayithi angakusiza ukuba uqonde kangcono i-Patau syndrome futhi ufinyelele eminye imindeni ethinteke yi-trisomy 13. Ukukhuluma nochwepheshe wokubeletha ngokubeletha kungakusiza ukuthi ufunde ukuthi yini ongayilindela uma ingane yakho ingasindile esibhedlela, futhi ikusize unqume ukuthi yini izinhlobo zokungenelela ofuna ingane yakho.
Izinkomba:
Rios, A., Furdon, S., Adams, D., & Clark, D. (2004). "Ukuqaphela Izici Zemitholampilo Ye-Trisomy 13 Syndrome." Intuthuko Ekunakekelweni Kwangasese. Ibuyiselwe kusuka: MDhttp: //www.medscape.com/viewarticle/496393_9
UNelson, K., Hexem, K., & Feudtner, C. (May 2012). "Ukunakekelwa Kwezingane Ezihlinzeka Ngesifo Sokugula Esinezingane Eziphethe I-Trisomy 13 ne-Trisomy 18 e-United States." Izingane zokwelapha. 129 (5) 869 -876.
Swanson, J. & Sinkin, R. (Dec. 2013). Imitholampilo e-Perinatology. "Ukuzalwa Kwangaphambi Kokuzalwa Nezinkinga Zokuzalwa Zamaqanda: Ukusebenzisana Okuyinkimbinkimbi." 40 (4): 629-44.
I-Genetics Home Reference. "I-Trisomy 13." Ibuyiselwe kusuka ku-https: //ghr.nlm.nih.gov/condition/trisomy-13