Hanyoyi Uku na Down Down

Samar da kwatankwacin Trisomy, Translocation, da kuma Misalai na Yanayin

Kila ku sani cewa Ciwo Down yana da yanayin kwayoyin halitta wanda ke haifar da bambancin halaye na jiki da kuma jinkiri na cigaba. Bayan haka, yawanci ne: Ƙungiyar Ciwon Lafiya ta kasa (NDSS) ta ce a kan shafin yanar gizon yanar gizon yanar gizon ta cewa kimanin daya daga cikin yara 700 ne aka haifa tare da yanayin.

Amma kun san akwai cututtukan Down syndrome, dukansu sun haɗa da 21 na biyu na chromosomes?

Mafi yawan al'ada, ƙwararru 21 , yana da alhakin kashi 95 cikin 100 na ƙananan cututtukan Down syndrome. Kimanin kashi hudu ne ake kira ƙaddamar Down syndrome, da sauran kashi ɗaya cikin dari, mosaicism. Ga ɗan taƙaitaccen ra'ayi game da irin nau'o'in Down syndrome da aka kwatanta.

Trisomy 21 Down Syndrome

Yawancin lokaci mutum ya sami nau'i nau'i nau'i nau'i nau'i na chromosomes daga mahaifi da uban ga duka 46. Duk da haka, mutanen da ke fama da ƙwayar cutar Down syndrome tare da 47 chromosomes saboda suna samun karin kwafin chromosome 21. Wannan ya faru ne lokacin da 21 na biyu na Chromosomes daga ko dai kwai ko maniyyi ba su da raba.

Hawan ƙaddamarwa Down Syndrome

Cigaba Down Down syndrome yana faruwa a lokacin da biyu chromosomes, daya daga wanda shi ne lamba 21, shiga tare a iyakar su. Maimakon samun 'yanci guda uku, raba guda 21 na chromosomes, mutumin da ke ɗauke da Down syndrome yana da nakasoshi guda biyu na ƙira guda 21 da kuma ƙwayar cuta 21 da aka haɗe zuwa wani chromosome.

Chromosomes da aka haɗa sune ake kira chromosomes masu ƙyama. Wasu lokuta wani ɓangaren ƙananan chromosome ne ya gaji daga iyaye, amma kuma zai iya faruwa a karo na farko a cikin mutumin da Down syndrome. (Wannan shi ne saninsa na novo). Lokacin da aka gano jaririn tare da ƙwayar Down syndrome, yana da muhimmanci cewa iyayenta suna da gwajin karyotype don ganin idan ɗayansu yana ɗaukar fassarar, tun da za'a iya wucewa zuwa wani yaron.

Ko da yake ƙwayar Down syndrome ta auku ne ta hanyar wata hanya daban fiye da tarkon jiki 21, jiki da siffofin da ke nuna yanayin sun kasance iri ɗaya.

Masihu Down Down

A mosaic Down syndrome , ba dukan kwayoyin jikinsu a cikin jiki suna da 46 chromosomes. Maimakon haka, yawancin kwayoyin halitta na da samfurori 47, tare da karin kwafin chromosome 21.

Alal misali, a cikin samfurin kwayoyin jini 20 daga jariri tare da ciwon ƙwayar ƙwayar ƙwayar ƙwayar ƙwayar cuta, ƙwayoyin 10 zasu iya samun ƙananan chromosome 21 (47 chromosomes duka) yayin da sauran 10 daga cikin wadannan kwayoyin ba su da. Bisa ga waɗannan ƙididdigar, jaririn zai sami nauyin kashi 50 cikin dari. Idan wannan samfurin jini ya wakiltar jini a matsayin cikakke, to rabin rabi a cikin wannan yaron zai zama na al'ada, kuma sauran rabi zai ƙunshe da chromosome.

Matsayin mosaicism mutum ya bambanta dangane da samfurin nama. Alal misali, samfurin fata zai iya nuna nauyin mosaicism daban-daban daga samfurin kwakwalwa daga jikin mutum. A kowane hali, mutanen da ke da mosaicism sau da yawa suna da alaƙa da siffofin jiki da sauran halaye, kodayake kamar yadda kowa ya kasance, ba zai yiwu ba ne don fadada cikakkun bayanai.