Wani nau'i na rashin lafiyar da ba shi da mawuyacin hali
Down syndrome , wanda aka fi sani da trisomy 21, shi ne cututtukan kwayoyin cutar da aka haifar da kasancewar wani karin kwafin chromosome da ake kira chromosome 21. Wannan ana kiran shi a matsayin cikakkiyar nau'i na 21.
Abin da mafi yawan mutane ba su sani ba shine akwai wani, wanda ba shi da ma'ana, irin yanayin da ake kira Mosaic Down syndrome da aka gani a tsakanin kashi 2 cikin 100 zuwa kashi 4 na dukkan lokuta.
Ba wai kawai ne dalilin da ya bambanta da abinda ke cike da ƙwayar cuta ba 21, zai iya haifar da bambancin cikin siffofin Down syndrome.
Yaya Masiha na Masihu na Musis ya kasance
Duk da yake jikinmu yana dauke da nau'o'in iri-iri daban-daban, kowannensu daga cikin wadannan kwayoyin sun samo asali ne daga guda guda, wanda ake kira hadu da zygote. Zygote yana farawa ne kamar tantanin halitta wanda, a kan haɗuwa, yayi maimaita kansa da sake sake haifar da kwayoyin halitta daban-daban da kyallen jikin jikinmu.
Tare da cikakkiyar ɓacin jiki 21, kuskure yana faruwa a cikin chromosome na ko dai kwai ko kuma kwayar halitta yayin da suke haɗuwa don zama zygote. Saboda wannan kuskure yana faruwa ne a farkon ci gaba, kowace tantanin da ke fitowa daga wannan zygote zai sami wannan ƙarancin chromosome 21.
Tare da mosaic trisomy 21, kuskure ya faru bayan hadi lokacin da radiyon ya riga ya fara. A sakamakon haka, mutanen da ke fama da ciwon ƙwayar cuta na Mosaic suna da layi guda biyu masu layi: daya tare da yawan adadin chromosomes kuma wani tare da ƙananan chromosome 21.
Sanin asali
Ƙunƙasar ƙwayar Musa na yawanci ana gano ko dai tare da gwajin jini a lokacin haihuwar haihuwa ko ta hanyar amniocentesis ko chorionic villus sampling (CVS) da aka gudanar a wani lokacin lokacin ciki.
A cikin wadannan hanyoyi, an yi nazari don ƙidaya yawan adadin chromosomes a cikin nau'in iri iri daban-daban.
Wannan bincike zai iya gano ƙwayar Down syndrome da kuma bincikar ƙwayar cutar irin na Down syndrome.
An bambanta nau'in kamar haka:
- Cikin cikakkun trisomy 21, dukkan nau'in tantanin halitta zasu sami karin samfurori 21. Don haka a maimakon gano ƙananan chromosomesu 46 a cikin sel daya, za mu sami 47.
- Ya bambanta, idan guda biyu ko fiye na iri-iri iri na al'ada kuma wasu suna da karin ƙwayar cuta 21, zamu iya tabbatar da cewa jariri yana da ƙananan ciwon ƙwayar cuta.
A cikin jarirai tare da mosaic Down syndrome, matakin matakin chromosomal zai iya bambanta. Masana kimiyya na Chromosomal, wanda ake kira cytogeneticists, zasu kwatanta wadannan bambancin cikin sharuddan yawan adadi.
Alal misali, idan cytogeneticist ya ƙidaya ƙwayoyin sel 50, 10 daga cikinsu suna da layin salula na al'ada kuma 40 daga cikinsu suna da karin ƙwayar cuta 21, zaiyi rahoton cewa matakin "mosaicism" shine kashi 80.
Don kara matsalolin al'amura har ma da karawa, adadin mosaicism zai iya bambanta daga nau'in nama guda zuwa na gaba, tare da wasu masu girma da nauyin mosaicism da sauransu da ke da ƙasa.
Bambanci a cikin Hanyoyin
Bai kamata nassi ya fassara zuwa bambance-bambance a cikin siffofin cutar ba. Saboda matakan mosaicism na iya bambanta tsakanin mutane-har ma da kwayoyin halitta a cikin waɗannan mutane - bayanin ma'anar mosaicism zai iya bambanta.
Saboda haka, mutane da ƙwayar Down syndrome na mosaic na iya samun dukkanin fasalulluka na cikakke nau'i na 21, babu fasali, ko fadawa a wani wuri tsakanin. A gaskiya ma, kimanin kashi 15 cikin dari na mutanen da aka gano tare da cike da ciwo mai tsanani 21 Down syndrome sun kasance marasa kuskure kuma suna da ƙwayar Down syndrome.
Yayin da har yanzu ba zai yiwu ya hango siffofin mosaicism ba, yana da mahimmanci cewa yaro ya sami magani guda ɗaya a matsayin yara tare da cikakkun nau'ikan kwayoyi 21. Kulawa mai gudana zai iya taimaka wajen gano ƙaddamar da wani nakasa kuma ya ba ka damar yin zaɓin bayani da samun sabis ya fi dacewa ya taimaki yaro yayin da yake girma.
> Sources:
> Cibiyar Kula da Cututtuka da Cututtuka (CDC). Facts Game da Ciwo Down. Updated Maris 3, 2016.
> Ƙungiyar Ciwon Ƙungiyar Ƙasa ta Ƙasa ta Ƙasa. FAQ / MDS Facts.