Kuyerekezera Trisomy, Translocation, ndi Maonekedwe a Mose a Chikhalidwe
Mwinamwake mukudziwa kuti Down syndrome ndi chibadwa chomwe chimayambitsa maonekedwe osiyanasiyana osiyanasiyana ndi kuchedwa kwa chitukuko. Ndipotu, ndizofala: National Down Syndrome Society (NDSS) imanena pa webusaiti yathu kuti pafupifupi mwana mmodzi mwa ana 700 ali ndi vutoli.
Koma kodi mumadziwa kuti pali mitundu yosiyanasiyana ya matenda a Down, omwe onsewa amaphatikizapo ma chromosomes awiri?
Mtundu wofala kwambiri, trisomy 21 , uli ndi udindo wa 95 peresenti ya matenda a Down syndrome. Pafupifupi anayi aliwonse amatchedwa translocation Down syndrome, ndipo otsalawo aliwonse, ojambula zithunzi. Tawonani mwachidule momwe mitundu itatu ya matenda a Down syaprome ikuyerekeza.
Trisomy 21 Down Syndrome
Kawirikawiri anthu amakhala ndi magawo 23 a ma chromosomes kuchokera kwa mayi ndi bambo onse okwanira 46. Komabe, anthu omwe ali ndi matenda a trisomy akuwuluka ndi ma chromosome 47 chifukwa amapeza kachilombo kake ka chromosome 21. Ma chromosomes kuchokera pa dzira kapena umuna amalephera kulekanitsa.
Translocation Down Syndrome
Matenda a Translocation Down amapezeka pamene ma chromosomes awiri, omwe ali ndi nambala 21, amasonkhana pamodzi pamapeto pake. M'malo mokhala ndi mavoti atatu, odzipatula nambala 21, munthu amene ali ndi matenda a Down Transmitation ali ndi ma chromosome awiri omwe amadziimira okha 21 komanso chromosome ya nambala 21 yomwe imagwiritsidwa ntchito ku chromosome ina.
Ma chromosomes okhudzana amatchedwa ma chromosome ochotseramo. Nthawi zina chromosome yomwe imachokera kuchokera kwa kholo, koma ikhoza kuchitika koyamba kwa munthu yemwe ali ndi syndrome. (Izi zimatchedwa transnation de novo). Pamene mwana amapezeka kuti ali ndi matenda a Downlocation, n'kofunika kuti makolo ake aziyezetsa karyotype kuti awone ngati mmodzi wa iwo atenga translocation, chifukwa akhoza kupitsidwira kwa mwana wina.
Ngakhale kusintha kwa matenda a syndrome kumachitika m'njira yosiyana ndi trisomy 21, zomwe zimapangitsa kuti chikhalidwecho chikhale chofanana.
Mosaic Down Syndrome
M'maganizo otchedwa Down syndrome , si maselo onse m'thupi ali ndi ma chromosomes 46. M'malomwake, maselo ambiri akhoza kukhala ndi ma chromosomes 47, ndi makope ena a chromosome 21.
Mwachitsanzo, mu chitsanzo cha maselo 20 a magazi kuchokera kwa mwana yemwe ali ndi matenda otchedwa Down syndrome, maselo 10 akhoza kukhala ndi chromosome 21 (ma chromosome 47 okwanira) pamene ena 10 mwa maselowa samatero. Malinga ndi izi, mwanayo akhoza kukhala ndi zithunzi zokwana 50 peresenti. Ngati chitsanzo cha magazichi chikaimira magazi onse, ndiye kuti theka la maselo m'magazi a mwanayo ndilobwino, ndipo theka lina likhoza kukhala ndi chromosome yowonjezera.
Mmene munthu amaonekera mosavuta amasiyana ndi zitsanzo za minofu. Mwachitsanzo, chitsanzo cha khungu chikhoza kusonyeza mtundu wosiyana wa zojambulajambula kuchokera ku chitsanzo cha minofu ya ubongo kuchokera kwa munthu yemweyo. Mulimonsemo, anthu okhala ndi mosaicism nthawi zambiri amakhala ndi makhalidwe ochepa komanso makhalidwe ena, ngakhale kuti ali ndi wina aliyense, n'zosatheka kupanga generalizations.