Ukutshintshwa kweRobertsonian kunye ne-Down Syndrome

Imiphumo yolu tshintshelo ixhomekeke ekubeni ingaba ingakanani na

Ukutshintshwa kweRobertsonian enye yeendlela ezimbini zokuthunyelwa kwe-chromosomal. Ukutshintshiselwa kwezinto kuvela xa iqela le-chromosome liyeka kwaye linamathela kwenye i-chromosome. Ama-Chromosomes afakwe njengaleta x. Ingxenye ephezulu ye-chromosome yaziwa njengezixhobo ezifutshane. Iingalo ezimfutshane zixhunywe kwisiqingatha esiphantsi, iingalo ezide, nge-centromere.

Kwi-translocation yaseRobertsonian, iingalo ezimfutshane ziphukile kwaye iingalo ezinde zihlangene kunye ne-centromere ukuya ekupheleni.

Ukutshintshwa kweRobertsonian kunokuba kulungelelanise okanye kungalingani. Ukutshintshwa kwe-Robertsonian ngokulinganisela akuvelanga iimpawu, kwaye akusichaphazeli ixesha lokuphila. Abantu abanolu hlobo lothungelwano baya kuthathwa njengabathwali. Abaphathi beRoottson bafakwa kwi-chromosomes ezingama-45, endaweni yesimo esiqhelekileyo 46. Abo banefomu elingalinganiyo banokuba neengxaki zempilo kunye nokuphila okuncinciweyo. Ukuba i-chromosome ye-21 ibandakanyeka ekwenzeni ukudluliselwa, oku kungenza i- Down syndrome .

Kuphela ama-chromosomes athile angenza i-Robertsonian translocations - i-chromosomes 13, 14, 15, 21 ne-22.

Izizathu

Kwiimeko ezininzi, ukuhanjiswa kweRobertsonian kwenzeka ngezikhathi. Ukutshintshiselwa kwezinto kwenzeka xa i-sperm kunye namaqanda (ngokuqhelekileyo amaqanda) enza. Akukho nto oyenzile ukuyenza kwaye akukho nto unokuyenza ukuze uyiphephe.

Omnye wabantu abayi-1 000 uzalwe ngeRobertsonian translocation.

Yintoni eyenzekayo Ukuba Ndingumthubi?

Ukuba ungumthwali-nkampani, cishe awuyi kubona nayiphi na impawu uze uzame kwaye ukhulelwe. Amadoda athatha iRobertsonian echanekileyo yokuthuthwa kwintlaninge yinto enokwenzeka ukuba ibe nesibalo sembewu esezantsi. Abathwala nabo banomngcipheko wokwanda kokukhulelwa.

Abantu abanezixhobo ezide ezimbini ze-chromosome efanayo - 13:13, 14; 14, 15; 15, 21; 21, no-22; 22-ziya kuvelisa ummi kunye namaqanda ngamakromosomes angalingani, okwenza kube nzima ukufikelela kwixesha elipheleleyo ukukhulelwa kwenzeke.

Kuzo zonke ezinye izithwala, kukho iziphumo ezine zokukhulelwa okusemandleni:

1. Ukukhulelwa kunye nosana ziqhelekileyo. Ukukhulelwa kuthathwa kwithuba kwaye umntwana uzalelwe ngama-chromosomes angama-46.
2. Ukukhulelwa kuyinto eqhelekileyo kodwa umntwana usenza i-translocation efanelekileyo. Kule meko, umntwana (njengomzali wabo) uthatha utshintsho kwaye akanakho ukukhubazeka kwempilo okanye ukukhubazeka.
3. Ingane izalwe ngengxaki ye-chromosome. Kwiimeko ezininzi, iintsana zizalwe nge-translocation Down syndrome.
4. Ukukhulelwa kubangela ukukhulelwa kwesisu okanye akukho nto ifuthe ngokupheleleyo. Ukuba isidoda okanye iqanda lingenawo ama-chromosomes alinganisiweyo, ukukhulelwa kungenako ukwenza ngokufanelekileyo, ukuphazamiseka, okanye kubangele ukuzala.

Ukuba uthwala iRobertsonian translocation kwaye uzama ukukhulelwa, khuluma nomcebisi wezofuzo ukuze ufunde kabanzi malunga nobungozi bakho, ngokukodwa.

Ukungahanjiswa kweRobertsonian Translocation

Ukufuduka kweRobertsonian kunokuvelisa ukukhubazeka kwempilo kunye nophuhliso xa kungalingani.

Uhlobo oluqhelekileyo lokuthuthwa kwempahla olungalinganiyo luhambisa i-Down syndrome. Ukutshintshwa kwe-Down syndrome kuvelisa iimpawu ezifanayo kunye neempawu ezibonakalayo ze-Down syndrome. Kulo hlobo lokudluliselwa kwe-Down syndrome, umntwana unemifanekiso yesithathu yengalo ende ye-chromosome 21 endaweni yesibini. Uninzi lwabantwana abanolu hlobo lwe-Down syndrome bazalwa ngabazali abaqhelekileyo be-chromosom. Nangona kunjalo, izithuthi ezinokulinganisela, ngokuqhelekileyo, zingabantwana abanolu hlobo lwe-Down syndrome.

Ezinye izinto ezingenakulungelelaniswa kweRobertsonian ziquka ukudluliselwa kwe-trisomy 13, ebangela i-Patau syndrome; ukungasebenzi komzali, okubangela ukuba i-chromosome izame ukuzilungisa; ukulungiswa kwe-chromosome 14, engabangela ukulibaziseka kokuphuhliswa; kwaye yalungisa i-chromosome 15, engabangela iimpawu ezifana ne-Prader-Willi syndrome okanye i-Angelman syndrome.

_Umthombo:

_{RareChromo. Ukutshintshwa kweRobertsonian (2005).}

_{LweMicrosoftNet. Inkcazo yeRobertsonian Translocation. (2012).}