Ngezinye izikhathi udokotela angakutshela ukuthi kukhona ushintsho oluncane ezizakhini zakho zofuzo, olubizwa ngokuthi 'i-Robertsonian Translocation'. Ungase wesabe uma uzwa la mazwi. Kuvamile ukucabanga izinto ezinjengokuthi, 'Ingabe lesi yisifo esibi kakhulu? Ingabe sizoba yinkinga ezinganeni zami?' Kodwa ungesabi. Lokhu kuyinto abantu abaningi abangazi ngayo, kodwa kufanelekile ukuyazi. Lesi yisimo esingavamile kakhulu, okusho ukuthi ngokwesilinganiso, cishe umuntu oyedwa kwabangu-900 angaba naso. Namuhla, sizokhuluma ngaso ngendlela elula kakhulu, ngendlela ongayiqonda.
Kalula nje, ziyini izakhi zofuzo nama-chromosome?
Ngaphambi kokuba sikuqonde lokhu, ake sibheke ukuthi imizimba yethu yenziwe kanjani. Ake sithi imizimba yethu iyilabhulali eneshelufu elikhulu lezincwadi. Yonke incwadi ekule labhulali iqukethe imiyalelo eyasidala.
Lezi zincwadi yilokho esikubiza ngokuthi ama-chromosome kwezokwelapha. Lezi yizo ezigcina lonke ulwazi lwethu lwezakhi zofuzo - isethi yemiyalelo enquma konke kusukela kumbala wezinwele zethu, umbala wamehlo, ukuphakama, nombala wesikhumba.
Ngokuvamile, umuntu ophilile unama-chromosome angu-46. Kulawa, sithola angu-23 kumama wethu kanti amanye angu-23 kubaba wethu.
Ngakho-ke lokhu kuthuthela eRobertsonian kwenzeka kanjani?
Kuma-chromosome angu-46 emzimbeni wethu, ama-chromosome angu-13, 14, 15, 21, kanye no-22 akhethekile kancane. Abizwa ngokuthi ama-chromosome angama-acrocentric . Lawa ma-chromosome 'anengalo' eyodwa emfushane kakhulu. Okubaluleke kakhulu, lengalo emfushane cishe ayinalo ulwazi olubalulekile ekusebenzeni komzimba wethu.
Manje, ku-Robertsonian Translocation, okwenzekayo ukuthi izingalo ezimfushane zama-chromosome amabili kwamahlanu acrocentric engikhulume ngawo ekuqaleni ziyaphuka, futhi izingalo ezinde zalawo ma-chromosome amabili ziyanamathelana. Kufana nokuphula izingcezu ezimbili ezincane zezinti ezimbili bese uzisusa, bese unamathisela izingcezu ezimbili ezinkulu ezisele ndawonye. Khona-ke lezo zingalo ezimbili ezincane ezingenamsebenzi ziyanyamalala.
Uma ama-chromosome amabili ehlanganiswa ngale ndlela, inani eliphelele lama-chromosome lomuntu manje lingu-45, hhayi u-46. Kodwa ngeke abe nezinkinga zempilo. Ngoba izingcezu ezimbalwa ezincane ezingenazo izakhi zofuzo ezibalulekile zalahleka.
Ingabe zikhona izinhlobo zalokhu?
Yebo, lesi simo singahlukaniswa ngezinhlobo ezimbili eziyinhloko. Uzosiqonda kalula uma ubheka leli thebula.
| Uhlobo | Incazelo |
|---|---|
| Ukudluliselwa Kwendawo Elinganiselwe KwaseRobertsonian (Okulinganiselwe) | Abantu abanalesi simo abanazo izimpawu noma izinkinga zempilo. Baphila impilo ende nenempilo. Esikhathini esiningi, abazi nokuthi banaso. Laba bantu babizwa ngokuthi 'abathwali' ngoba abanaso lesi simo, kodwa bangasidlulisela ezinganeni zabo. |
| Ukudluliselwa Kwendawo Engalingani KwaseRobertsonian (Okungalingani) | Yilapho izinkinga zingavela khona. Yilapho umntwana ethola khona izakhi zofuzo eziningi kakhulu noma ezincane kakhulu. Lokhu kuvame ukutholakala ngemva kokuzalwa komntwana. Ngezinye izikhathi, noma ngabe ama-chromosome abazali ajwayelekile, lesi simo singakhula ngenkathi umntwana ekhula esibelethweni. Akuvamile kakhulu, omunye wabazali ungumthwali futhi umntwana angaba nalesi simo. |
Ingane izuza kanjani lesi simo njengefa?
Uma umuntu othwala i-Robertsonian Translocation enengane nomunye umuntu, i-gene ingazuzwa ngezindlela ezintathu eziyinhloko. Ake uzicabange ukuthi ungumthwali.
1. Ingane ephilile ngokuphelele: Ingane yakho ingathola isethi evamile yama-chromosome kuwe nakumlingani wakho. Khona-ke ingane ngeke ibe nezinkinga zofuzo. Izoba nempilo ephelele.
2. Ingane nayo izoba ngumthwali: Ingane, njengawe, ingase ithole i-chromosome edluliselwe kanye nama-chromosome ajwayelekile. Khona-ke ingane ngeke ibe nezinkinga zempilo. Kodwa nayo izoba ngumthwali njengawe esikhathini esizayo.
3. Isimo esingalingani: Lokhu kwenzeka lapho umntwana ethola inani elengeziwe noma elincane lezinto zofuzo. Isibonelo, umntwana angathola i-chromosome evamile kanye ne-chromosome eyengeziwe. Lokhu kungabangela umntwana ukuba abe nezimo ezithile zofuzo, njenge- translocation Down syndrome noma i-Patau syndrome . Kodwa-ke, uhlobo kanye nobunzima besimo kuncike kuma-chromosome aqondile atholwayo.
Ingabe zikhona ezinye izingozi?
Owesifazane onesifo sokukhuliswa kwesisu eRobertsonian angase abe sengozini yokuphuphuma kwesisu ephezulu kancane kunejwayelekile. Futhi, amanye amadoda analesi simo angase abe nenani eliphansi lesidoda noma ikhono eliphansi lokukhiqiza isidoda.
Ungasibona kanjani lesi simo?
Abantu abaningi abazi ukuthi bangabathwali balesi sifo. Bathola kuphela ukuthi baphuphunyelwe yisisu ngokuphindaphindiwe noma ukuthi umntwana uzalwa enesimo sofuzo. Udokotela uzokhipha umyalelo wokuhlolwa ukuze athole ukuthi kwenzekani.
Ukuhlolwa kokuthola lokhu kulula kakhulu. Kuwukuhlolwa kwegazi okulula. Kuthathwa igazi elincane kuwe bese ama-chromosome asemaseli egazi ahlolwa ngaphansi kwe-microscope. Lokhu kuhlolwa kubizwa ngokuthi i-Karyotyping . Kungabonakala ngokucacile ukuthi unawo wonke ama-chromosome angu-46 ngokulandelana, noma uma une-chromosome eyodwa engaphansi (45), nokuthi ngabe kukhona yini ama-chromosome anamathele ndawonye.
Uma wazi ukuthi othile emndenini wakho unalesi simo sofuzo, udokotela wakho angase akuncome ukuthi wena nomlingani wakho nihlolwe ngaphambi kokuba nizame ukuba nomntwana.
Kuvamile ukuzizwa wesaba futhi ukhathazekile uma uthola ngalesi simo. Kodwa into ebaluleke kakhulu ukuthola ulwazi olufanele nokufuna iseluleko sezokwelapha esidingekayo.
Umlayezo Wokuya Nawe Ekhaya
- Ukufuduka kweRobertsonian akusona isifo okufanele sesatshwe. Iningi labantu abanaso (abathwali baso) baphile impilo ejwayelekile futhi baphila impilo evamile.
- Umthelela omkhulu walokhu ingozi yokudlulisela isakhi sofuzo enganeni. Kodwa-ke, noma ngabe ungumthwali waso, usenethuba elihle lokuba nezingane ezinempilo.
- Uma unezisu ezihlala ziphuphuma, ubunzima bokukhulelwa, noma umlando womndeni wezifo zofuzo, kuwukuhlakanipha ukukhuluma nodokotela wakho mayelana nokuhlolwa okufana ne-karyotyping.
- Uma uneminye imibuzo mayelana nalokhu, ungangabazi ukubuza udokotela wakho . Uzokunikeza lonke ulwazi, iseluleko, kanye nokudluliselwa kolwazi ukuze uthole ukwelulekwa ngofuzo uma kudingeka.
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