Ukuguqulwa kweRobertsonian ne-Down Syndrome

Imiphumela yalokhu kuthutha ixhomeke kungakhathaliseki ukuthi ilinganisiwe noma cha

Ukudluliswa kweRobertsonian kungenye yezinhlobo ezimbili zokudluliselwa kwe-chromosomal. Izinguquko zenzeka uma isiqeshana se-chromosome siyeka futhi sinamathela kwenye i-chromosome. Ama-Chromosomes afakwe njenge-x. Ingxenye ephezulu ye-chromosome yaziwa njengezingalo ezimfushane. Izingalo ezincane zixhunywe engxenyeni engezansi, izingalo ezide, nge-centromere.

Esikhathini sokudluliselwa kweRobertsonian, izingalo ezincane ziphukile futhi izingalo ezinde zihlangana ndawonye ne-centromere kuze kube sekupheleni.

Ukuthuthwa kweRobertsonian kungaba okulinganiselayo noma okungalingani. Ukushintshwa okulinganiselayo kweRobertsonian akukhiqizi izimpawu, futhi akuthinti impilo. Abantu abanalolu hlobo lokudluliswa komhlaba babhekwa njengabathwali. Abathwali be-translocation yaseRobertson banama-chromosomes angu-45, esikhundleni sokujwayelekile 46. Labo abanenkinga engalingani bangase babe nezinkinga zempilo ezibalulekile kanye nokuphila okuncishisiwe. Uma i-chromosome yenombolo engu-21 ibandakanyeka ekwenzeni ukudluliselwa, lokhu kungabangela i- Down syndrome .

Ama-chromosome athile kuphela angakha ama-translocations angu-Robertsonian - ama-chromosomes 13, 14, 15, 21, no-22.

Izimbangela

Ezimweni eziningi, ukuhanjiswa kweRobertsonian kwenzeka ngokungahleliwe. Ukudluliselwa komhlaba kwenzeka ngenkathi i-sperm namaqanda (ngokuvamile amaqanda) enza. Akukho lutho olwenzile ukukwenza futhi akukho lutho ongayenza ukuze uluvimbele.

Umuntu oyedwa kubantu abayi-1 000 uzalwa nge-translocation yaseRobertsonian.

Kwenzekani Uma Ngingumphakeli?

Uma ungumthwali, cishe cishe ngeke uqaphele izimpawu uze uzame futhi ukhulelwe. Amadoda athatha i-translocation elinganiselayo yaseRobertsonian cishe amathuba okuba nesibalo sembewu esezansi. Izithuthi zinezinkinga ezengeziwe zokukhulelwa.

Abantu abanezingalo ezimbili ezide zange-chromosome efanayo - 13:13, 14; 14, 15; 15, 21; 21, no 22; 22 - bazokhiqiza isidoda namaqanda ngamakromosomes angalingani, okwenza kube nzima ukuphela kwesikhathi ukukhulelwa kwenzeke.

Kuzo zonke ezinye izithwali, kuneziphumo ezine zokukhulelwa okungenzeka:

1. Ukukhulelwa nomntwana kokubili kuvamile. Ukukhulelwa kuthathwa isikhathi futhi ingane izalwa ngamakhilogremu angu-46 evamile.
2. Ukukhulelwa kuyinto evamile kodwa ingane ithatha ukushintshwa okulinganayo kweRobertsonian. Kulesi simo, ingane (njengomzali wayo) ithatha ukudluliselwa futhi ayinakho ukukhubazeka kwempilo noma yentuthuko.
3. Ingane izalwa ene-disorder ye-chromosome. Ezimweni eziningi, izinsana zizalwa nge-translocation Down syndrome.
4. Ukukhulelwa kubangelwa ukukhulelwa kwesisu noma ukungafaki ngokugcwele. Uma i-sperm noma iqanda lingenayo i-chromosomes elinganisiwe, ukukhulelwa kungase kungabi kuhle, kuphazamiseke, noma kubangele ukubeletha.

Uma uthwala ukudluliselwa kweRobertsonian futhi uzama ukukhulelwa, khuluma nomeluleki wezofuzo ukuze ufunde kabanzi mayelana nezingozi zakho, ikakhulukazi.

Ukudluliselwa kwe-Robertsonian okungalingani

Ukuthuthwa kweRobertsonian kungaveza ukukhubazeka kwempilo nokuthuthukiswa uma kungalingani.

Uhlobo oluvame kakhulu lwe-translocation engalinganiselwe ludlulisela i-Down syndrome. I-Translocation Down syndrome ikhiqiza izimpawu ezifanayo kanye nezici zomzimba ze-Down syndrome evamile. Kuhlobo lwe-translocation lwe-Down syndrome, ingane inezinkokhelo ezintathu zengalo ende ye-chromosome 21 kunokubili. Iningi lezingane ezinalolu hlobo lwe-Down syndrome zizalwa kubazali abavamile be-chromosomally. Noma kunjalo, izithwali ezilinganiselayo, ngokuvamile, zingabantwana abanalolu hlobo lwe-Down syndrome futhi.

Okunye ukudluliselwa okungalingani kahle kweRobertsonian kuhlanganisa ukudluliselwa kwe-trisomy 13, okubangela i-Patau syndrome; i-disomy engazali, eyenza i-chromosome izama ukuzilungisa; ilungiswe i-chromosome 14, engabangela ukubambezeleka kokuthuthukiswa; futhi waqondisa i-chromosome 15, engabangela izimpawu ezifana ne-Prader-Willi syndrome noma i-Angelman syndrome.

_Umthombo:

_{I-RareChromo. Ukushintshwa kweRobertsonian (2005).}

_{I-MedicineNet. Incazelo ye-Translocation yaseRobertsonian. (2012).}