Ukuqhathanisa i-Trisomy, i-Translocation, namafomu kaMose weSimo
Cishe uyazi ukuthi i-Down syndrome yisimo sezakhi zofuzo esibangela izici eziningi ezihlukene zomzimba nokulibaziseka kwentuthuko. Phela, kujwayelekile: I-National Down Syndrome Society (NDSS) ithi kuwebhusayithi yayo yokuthi cishe ingane eyodwa kwabangu-700 izalwa ngesimo.
Kodwa bewazi ukuthi kunezinhlobo ezahlukene ze-Down syndrome, konke okubandakanya ama-chromosomes amabili amabili?
Uhlobo oluvame kakhulu, i- trisomy 21 , linomthwalo wamaphesenti angu-95 we-Down syndrome amacala. Cishe amaphesenti amane abizwa ngokuthi i-translocation Down syndrome, kanye namaphesenti asele, ukukhonjiswa kwemifanekiso. Nakhu ukubuka okufushane ukuthi lezi zinhlobo ezintathu ze-Down syndrome ziqhathaniswa kanjani.
I-Trisomy 21 Down Syndrome
Ngokuvamile abantu bazuze ama- chromosomes angu-23 kusuka kumabili umama nobaba cishe abangu-46. Nokho, abantu abane-trisomy Down syndrome bavame ngamakhilogromosomes angu-47 ngoba bathola ikhophi eyengeziwe ye-chromosome 21. Lokhu kwenzeka uma Ama-chromosomes avela noma iqanda noma isidoda ahluleki ukuhlukana.
Ukudluliswa kwe-Down Syndrome
I-Translocation Down syndrome kwenzeka uma ama-chromosomes amabili, elinye lawo liyi-21, lijoyina ndawonye ekupheleni kwawo. Esikhundleni sokuba nama-chromosomes angama-21 ahlukene, ahlukaniswe ngama-chromosomes angama-21, umuntu one-Downlocation Down syndrome unama-chromosomes amabili enombolo ozimele angu-21 kanye ne-chromosome yenombolo engu-21 enamathele kwenye i-chromosome.
Ama-chromosomes axhunyiwe abizwa ngokuthi ama-chromosomes aphuma. Ngezinye izikhathi i-chromosome etholakalayo izuze ifa kumzali, kodwa futhi ingenzeka okokuqala kumuntu onesifo se-Down syndrome. (Lokhu kwaziwa ngokuthi i-de novo translocation). Uma ingane ithola ukuthi i-translocation Down syndrome, kubalulekile ukuthi abazali bayo babe nokuhlolwa kwe-karyotype ukubona ukuthi omunye wabo uthatha ukudluliselwa, ngoba kungenzeka udluliselwe komunye ingane.
Nakuba ukudluliswa kwe-Down syndrome kwenzeka ngendlela ehlukile kune-trisomy 21, izici kanye nezici eziphawula lesi simo zifana.
UMoseic Down Syndrome
Nge- mosaic Down syndrome , akuwona wonke amangqamuzana emzimbeni anama-chromosomes angu-46. Kunalokho, iphesenti lamaseli ingaba nama-chromosomes angu-47, nekhophi eyengeziwe ye-chromosome 21.
Isibonelo, kwisampula yamaseli angu-20 wegazi kusuka kumntwana one-Downic syndrome, amangqamuzana angu-10 angase abe ne-chromosome eyengeziwe engama-21 (ama-chromosomes angu-47 ingqikithi) ngenkathi enye yalezi zingqamuzana ayikho. Ngokusekelwe kulezi zibalo, umntwana uzoba nomsakazo wamaphesenti angu-50. Uma lesi sampuli segazi sabekeze igazi lonke, khona-ke ingxenye yengqamuzana yamaseli engane yegazi ingaba yinto evamile, kanti enye ingxenye ingaba ne-chromosome eyengeziwe.
Izinga lomuntu lokwehlukanisa umzimba lihluke ngokusekelwe kwisampula yezinyamazane. Isibonelo, isampula lesikhumba singabonisa izinga elihlukile lokusebenzisa ubuciko obuvela kumsampula wezicubu zobuchopho kusuka kumuntu ofanayo. Kunoma yikuphi, abantu abanobuciko bokuziphatha ngokuvamile babenezimpawu ezingezansi kanye nezinye izici, nakuba kunjalo nanoma ubani, akunakwenzeka ukwenza ukukhiqizwa okubanzi.