I-Trisomy 13, ebizwa ngokuba yi-Patau syndrome, i-defective syndrome, i-defectome defect echaphazela i-chromosome 13. Abantu abaninzi banamaqela angama-23 e-chromosome, kodwa abantu abanePatau syndrome banekhophi eyongezelelweyo ye-chromosome yesithathu. I-Trisomy 13 isifo esiyingozi se-genetic syndrome, kwaye ezininzi iintsana ezinePatau syndrome ziyafa ngaphambi kokuzalwa okanye ngeveki yokuqala yobomi.
Kukho iintlobo ezi-3 ze-trisomy 13:
- I-trisomy epheleleyo: Iimeko ezininzi ze-trisomy 13 zizalisekile. Ngama-trismi epheleleyo, yonke iseli emzimbeni iqukethe iikopi ze-chromosome 13.
- I-trisomy ekhethekileyo: Izigulane ezineengxaki ezingenanto zinekhophi epheleleyo yecromosome 13. Kunoko, zinengxenye eyongezelelweyo yechromosome efakwe kwenye i-chromosome kwiiseli zazo.
- UMoses: Izigulane ezine-trisomy 13 zibonisa i-chromosome 13, kodwa kuphela kwezinye iiseli zomzimba.
I-Trisomy 13 idla ngokubangelwa yimpazamo kwisahlulo seseli. Nangona umngcipheko wokuba nosana kunye ne-trisomy 13 uphezulu kumama adala, azuze ilifa kwaye ayikwazi ukudluliselwa kwiintsapho. I-exception kuphela i-trisomy ye-13, engayifumana ilifa. Naliphi na intsapho enembali ye-trisomy 13 kufuneka ibe neengcebiso zofuzo.
Iimpawu zePatau Syndrome
Ngenxa yokuba i-chromosome eyongezelelweyo ikhona kuwo wonke umzimba, i-trisomy 13 ingabangela iingxaki kwiinkqubo ezininzi zomzimba.
Ezinye iimpawu ze-trisomy 13 zinganyangwa ngamayeza okanye utyando, kodwa ezinye aziphilwanga. Iimpawu ziquka:
- Ukuzalwa kwangaphambili: Ininzi ye-trisomy 13 ukukhulelwa kuphelile ekuphumuleni komzimba okanye ukuzala. Iintsana ezizalwe ziphila zivame ukuzalwa kwangaphambili, zinexesha eliqhelekileyo lokunyuka kwamaviki angama-29. Ezi ntsana kufuneka zilwe neengxaki zokungcoliseka kwangaphambili kunye nezinye iimpawu ze-trisomy 13.
- Ubuso obubi: Iintsana ezininzi ezine-trisomy 13 zizalwe ngomlomo ocacileyo kunye / okanye i-palate palate. Amehlo angasetyenziselwa kunye kunye kwaye angadibana ndawonye ukuze enze iso linye. Iindlebe zingaba isethi ephantsi, kwaye iingxaki zesikhumba kwi-scalp (cutis aplasia) ziqhelekile.
- Iingxaki zentliziyo: Iingxaki zentliziyo ziqhelekileyo kwiintsana ezine-trisomy 13. Izibilini phakathi kwamagumbi ezintliziyo (i-defricular septal defect kunye ne-annal defect septal defect) kunye ne-patent ductus arteriosus zingafumaneka kwi-trisomy 13.
- Iingxaki kwingqondo: Kwamanye abantwana abane-trisomy 13, ngaphambili kwengqondo ayihluli kakuhle. Oku kubangele ubuninzi beengxaki zobuso ezinxulumene nengxaki. Abantwana abanePalau syndrome banokukhubazeka kakhulu kwengqondo kwaye banokubamba.
- Iingxaki zesisu: Iingxaki ze- GI kubantwana abane-trisomy 13 zingabandakanya i- hernias embilical kunye ne-hernias inguinal. I-Omphaloceles, apho inxalenye yamathumbu engekho ngaphandle komzimba, kwenzeka kwezinye iimeko.
- Iingxaki zesiphako: Iintsana ezine-Patau syndrome zinokuba neminwe eminwe okanye iinzwane, zifake izandla, okanye zenzeke iinyawo (i-rocker-bottom).
- Iingxaki zokuphefumula: Iintsana ezizalwe nge-trisomy 13 zihlala zifumana ingxaki yokuphefumla, okanye zinamaxesha apho ziyeka ukuphefumla (i-apnea).
Ngamaxesha amaninzi Ngaba iintsana ezine-Trisomy 13 Zisinda?
I-Trisomy 13 yinkinga enkulu.
Uninzi lweintsana ezine-trisomy 13 ziyafa ngeveki yokuqala, kwaye i-average life span isithuba seentsuku ezingama-5. Phantse i-10% ihlala kwiminyaka yokuqala yokuzalwa. Iintsana ezinokulinganisela xa zizalwa kwaye zine-mosaic okanye i-trisomi ekhethekileyo inokuthi iphile.
Nangona i-trisomy 13 ithathwa njengesifo esibulalayo esingahambelani nobomi, unyango lwamanje lwandise ubomi kunye nomgangatho wobomi babanye abantwana abane-Patau syndrome. Ngokuxhomekeka kububungqina bezinye iimpawu, utyando lunokunceda ukulungisa iinjongo zentliziyo okanye i-GI okanye ulungise i-cleft. Ukunyango olufanelekileyo lwezonyango kuye kwabanceda abantwana abaninzi nge-trisomy 13 ukuba babe nemihlali enkulu kwiintsapho zabo iminyaka emininzi.
Ukuba umntwana wakho une-trisomy 13, akumele ujongane nale syndrome yodwa. Amaqela enkxaso kunye newebhusayithi anokukunceda ukuba uqonde ngakumbi i-Patau syndrome kwaye ufikelele kwezinye iintsapho ezichaphazelekayo yi-trisomy 13. Ukuthetha nomninimzi wolwazi lokubeletha komntu oza kuzalwa kungakunceda ukuba ufunde oko kukulindela xa umntwana wakho engasindisi esibhedlele, kwaye unokukunceda ukuba wenze isigqibo iintlobo zongenelelo olufunayo umntwana wakho.
Iingxelo:
Rios, A., Furdon, S., Adams, D., & Clark, D. (2004). "Ukuqaphela iziganeko zeCliniki zeTrisomy 13 Syndrome." Ukuphucula ukuNakekelwa kweNonatal. Kubuyiselwe kwi: MDhttp: //www.medscape.com/viewarticle/496393_9
UNelson, K., Hexem, K., & Feudtner, C. (Meyi 2012). "Ukunakekelwa kweZibhedlele zeZibhedlele zabantwana abane-Trisomy 13 kunye ne-Trisomy 18 e-United States." Pediatrics. 129 (5) 869 -876.
UShanson, J. & Sinkin, R. (NgoDisemba 2013). Iikliniki kwiPerinatology. Ukuzalwa kwasekuqaleni kunye nokukhubazeka kozalo lokuzalwa: Ukusebenzisana okuMandla. " 40 (4): 629-44.
I-Reference Reference Home. "ITrisomy 13." Kubuyiselwa kwi-https: //ghr.nlm.nih.gov/condition/trisomy-13