Le Chromosome eyengeziwe ithinta zonke izindawo zomzimba
Ama-chromosomes wabantu angena kuma-pair amabili, umzali ngamunye unikeza i-chromosome eyodwa kubilidi ngalinye. I-Trisomy 18 (ebizwa nangokuthi i-Edwards syndrome) yisimo sezakhi zofuzo lapho i-chromosome eyodwa (i-chromosome 18) i-triplet esikhundleni se-pair. Njenga-Trisomy 21 ( Down syndrome ), i-Trisomy 18 ithinta wonke amasu omzimba futhi ibangela izici zobuso ezihlukile.
I-Trisomy 18 ivela ku-1 ku-6,000 ukuzalwa okuphilayo.
Ngeshwa, iningi lezingane ezine-Trisomy 18 ziyafa ngaphambi kokuzalwa, ngakho-ke ukukhubazeka kwangempela kwalesi sifo kungase kube ngaphezulu. I-Trisomy 18 ithinta abantu bazo zonke izizinda.
Izimpawu
I-Trisomy 18 ithinta kakhulu zonke izinhlelo zomzimba zomzimba. Izimpawu zingafaka:
- Isistimu yezinzwa nobuchopho - ukuphuza kwengqondo nokuthuthukiswa kokulibaziseka, ithoni ephakeme ye-muscle, ukuhlukunyezwa , nokukhubazeka ngokomzimba okufana nokukhubazeka kobuchopho
- Inhloko nobuso - inhloko encane (i- microcephaly ), amehlo amancane, ama-wide set-eye, umhlathi omncane ophansi, i-cleft palate
- Inhliziyo - izifo zenhliziyo ezibangelwa yi-congenital ezifana ne-ventricular septal defect
- Amathoni - ukuphuza okukhulu ukukhula, ukufaka izandla ngezandla ezimbili neminwe emihlanu phezu kwamanye, nezinye iziphambeko zezandla nezinyawo
- Amaphutha wegciwane lokugaya, i-urinary tract, kanye nezitho zangasese
Ukuxilongwa
Ukubonakala komntwana obelethwe kuyokubonisa ukuxilongwa kwe-Trisomy 18. Kodwa-ke, iningi labantwana liyatholakala ngaphambi kokuzalwa ngu-amniocentesis ( ukuhlolwa kofuzo lwe-amniotic fluid).
Ama-ultrasounds yenhliziyo nesisu angathola ukungajwayelekile, njengoba kunemikhawulo ye-ray yama-skeleton.
Ukwelapha
Ukunakekelwa kwezokwelapha kubantu abane-Trisomy 18 kusekela, futhi kugxile ekuhlinzekeni ukudla okunomsoco, ukuphatha izifo nokuphathwa kwezinkinga zenhliziyo.
Phakathi nezinyanga zokuqala zokuphila, izinsana ezine-Trisomy 18 zidinga ukunakekelwa kwezokwelapha abanekhono.
Ngenxa yenkinga yezokwelapha eziyinkimbinkimbi, kuhlanganise nokukhubazeka kwenhliziyo nokutheleleka okukhulu, izinsana eziningi zinenkinga yokusinda unyaka ongu-1. Izinqubekela phambili ekunakekelweni kwezekwelapha ngokuhamba kwesikhathi, kuzosiza esikhathini eside esizayo izinsizwa eziningi nge-Trisomy 18 zihlala ebuntwaneni nangaphezulu.
Umthombo:
"Kuyini i-Trisomy 18?" I-Trisomy 18 Isisekelo. 7 Meyi 2009.
Ehlelwe nguRichard N. Fogoros, MD