Ƙungiyar Robertsonian da Down Syndrome

Sakamakon wannan fassarar yana dogara akan ko an daidaita shi ko a'a

Aikin Robertsonian yana daya daga cikin nau'o'i na biyu na chromosomal. Gyara yana faruwa a yayin da wani ɓangaren chromosome ya rushe kuma ya tsaya ga wani chromosome. Chromosomes suna kama da wasika x. Mafi yawan ɓangaren chromosome ana sani da makamai marasa gajeren. An haɗu da makamai marasa gajeren zuwa rabi na ƙasa, da makamai masu tsawo, ta hanyar tsaka.

A cikin fassarar Robertsonian, makamai masu gajeren makamai sun kakkarye kuma yatsun makamai suna haɗuwa tare da centromer zuwa karshen.

Rikicin Robertsonian zai iya kasancewa daidai ko rashin daidaituwa. Daidaitawar Robertsonian daidai ba ta samar da alamar cututtuka ba, kuma ba zai shafi rayuwa ba. Mutane da irin wannan fasalin suna dauke da masu sufurin. Masu sufurin dashi na Robertson suna da 45 chromosomes, maimakon al'ada 46. Wadanda ke da nauyin da ba su da kyau ba zasu iya samun matsalolin kiwon lafiya da kuma raguwa ba. Idan mai amfani da lambobi 21 ya ƙunshi yin gyaran kafa, wannan zai iya haifar da Ciwo na Down .

Kusan wasu ƙayyadaddun ƙananan chromosomes zasu iya samar da gurbin Robertsonian - chromosomes 13, 14, 15, 21, da 22.

Dalilin

A mafi yawan lokuta, tafiyar Robertsonian yana faruwa ba da daɗewa ba. Sanyawa yana faruwa yayin da kwayar halitta da qwai (mafi yawan qwai) suna farawa. Babu wani abu da ka yi don ka sa shi kuma babu wani abin da ka iya yi don hana shi.

Ɗaya daga cikin mutane 1,000 an haife shi tare da fassarar Robertsonian.

Abin da ke faruwa idan na kasance mota?

Idan kai mai dauke ne, mai yiwuwa ba za ka lura da wani bayyanar cututtuka ba har sai ka yi ƙoƙari ka yi ciki. Maza maza da ke dauke da gurbin Robertsonian daidai zasu iya samun ƙididdigar jini. Masu sufuri suna da haɗarin haɗari na hasara.

Mutanen da suke da makamai biyu masu tsayi guda biyu - 13:13, 14; 14, 15; 15, 21; 21, 22; 22 - za su samar da maniyyi da kuma qwai tare da chromosomes maras kyau, baza su yiwu ba don cikakkun lokaci ciki don faruwa.

Ga dukan masu sufuri, akwai alamun ciki mai yiwuwa hudu:

1. Tsarin ciki da jariri ne na al'ada. An haifa ciki har zuwa lokacin kuma ana haifa jariri tare da 46 chromosomes.
2. Yayi ciki ne na al'ada amma jariri yana daukar fasalin Robertsonian daidai. A wannan yanayin, jariri (kamar iyayensu) yana ɗaukar sassaukarwa kuma ba shi da wani lafiyar lafiyar jiki ko ci gaba.
3. An haife jariri tare da cuta maras kyau. A mafi yawan lokuta, an haifi jariran tare da Down syndrome.
4. Tsarin ciki yana haifar da zubar da ciki ko ba cikakke ba. Idan maniyyi ko kwai ba shi da ma'aunin chromosomes, zubar da ciki ba zai haifar da kyau ba, rashin zubar da ciki, ko haifar da haihuwa.

Idan kana ɗauke da fassarar Robertsonian kuma suna ƙoƙari su yi ciki, ka yi magana da wani mai ba da shawara na kodayake don ƙarin koyo game da hadarinka, musamman.

Rikicin Robertsonian ba tare da bambanci ba

Hanya ta Robertsonian na iya haifar da rashin lafiya da ci gaban bunkasa idan ba ta da kyau.

Mafi yawan nau'in fassarar rashin daidaituwa shine ƙwayar Down syndrome. Sashin ciwon ƙwayar ƙwayar cuta yana haifar da irin wannan bayyanar cututtuka da halaye na jiki na ciwon ƙwayar Down syndrome. A cikin fasalin ƙwayar Down syndrome, yaro yana da nau'i uku na tsawon ƙarfin chromosome 21 a maimakon biyu. Yawancin yara da irin wannan ciwo na Down yana haifa ne ga iyaye na al'ada maras kyau. Duk da haka, masu sufurin daidaitawa, ƙananan ƙananan, suna da yara da wannan irin ciwon Down syndrome.

Sauran ƙauyukan Robertsonian da ba su da kyau sun haɗa da ƙaddamarwa ta jiki 13, wanda ke haifar da ciwon Patau; rikice-rikice na musamman, wanda zai haifar da chromosome yana ƙoƙarin gyara kansa; gyaran chromosome 14, wanda zai haifar da jinkirin cigaba; da kuma gyara chromosome 15, wanda zai iya haifar da bayyanar cututtuka kamar Prader-Willi ciwo ko Angelman ciwo.

_Source:

_{RareChromo. Robertsonian Translocation (2005).}

_{MedicineNet. Ƙaddamar da Yankin Robertsonian. (2012).}