
tetrasomy 9pii

saadhaarana randennam koodaathe chromosome 9-nte hraswakaiyude (pii aam ennu vilikkunnu) rund adhika pakarppukal ulla oru apoorva chromosomal disorderaanu tetrasomy 9pii (tetrasomy 9pii syndrome ennum ariyappedunnu). tetrasomy 9pii yude lakshanagal rogabadhitharaaya vyakthikalkkidayil vyaapakamaayi vyathyaasappedunnu, ennaal saadhaaranayaayi kaalathamasam varuthiya valarcha, asaadhaaranamaaya mukha savisheshathakal, boudhika vaikalyam enniva ulppedunnu. eee rogathinte lakshanagal trisomy 9pii-yumayi thaarathamyappeduthaavunnatha.
lakshanangalum adayaalangalum.
tetrasomy 9pii yude lakshanangalum roganirnayavum valare vyathyaasappettirikkunnu. isochromasominte valippam, 9pii chromosominte nirddishta pradeshangal, mosaik roopathil badhikkunna tissuekkalude ennam, tharam enniva adisthaanamaakkiyaanu lakshanangalude theevratha pradhaanamaayum nirnnayikkunnath.
mikka rogikalum oru paridhivare boudhika vaikalyam, asaadhaaranamaaya asthikooda, peshi vikasanam, asaadhaaranamaaya mukhaghadana enniva prakadippikkunnu. cheria patana vaikalyangal muthal boudhika pravartthanatthile gurutharamaaya kurravukal vare vaijnjaanika lakshanagal undu. peshikalude asaadhaaranamaaya vikasanam kaaranam, vyakthikalkk palappozhum parimithamaayatho kaalathamasamullatho aaya chalanathmakatha anubhavappedunnu. vishalamaaya akalamulla annukal, valia mookk, asaadhaaranamaayi sthaapicha chevikal enniva ulppede asaadhaaranamaaya mukha savisheshathakal syndrominte savisheshathayaanu. koodaathe, rogikalkku palappozhum kazhuthinu chuttum adhika charmmavum vishalamaaya akalamulla mulakkannukalum undu. vrukka, dahanam, hridaya, shwasana, naadeevyavasthayile asaadhaaranathakalude oru vishalamaaya shreni nireekshikkappettundu.
apoorvamaanengilum, tetrasomy 9pii ulla phenotypic saadhaarana vyakthikalude chila kesukal rekhappeduthiyittundu.
kaaranagal.
chromosome 9-nte cheria kaikalude rund adhika pakarppukal ullathaanu tetrasomy 9pick kaaranam. eee rund adhika pakarppukal saadhaarana 46 chromosomukalkku purame oru isochromosomaayi koshatthil kaanapedunnu. oru chromosominte oru kaii thanippakarpp cheyyumbol (eee saahacharyathil, hraswa kaii), mattonn nashtappedumbol (eee saahacharyathil, neelamulla kaii), rund samana kaikalulla oru chromosome roopappedumbol oru isochromousom roopappedunnu. cheria kaiyude vyathyastha alavukal isochromosomil ulppeduthaam, idaykkide, neelamulla kaiyil ninnulla dnaude cheria pradeshangalum ulppeduthunnu. eee adhika isochromosomine oru cheria supernumerary marker chromosomy tharamthirickunnu.
eee takaraar mikkavarum orikkalum paarambaryamaayi labhikkunnilla; muttakaludeyo beejatthinteyo roopeekarana samayat chromosomukalude anuchithamaya vitharanathiloodeyaanu ithu saadhaaranayaayi undaakunnath.
samvidaanam.
nondisjunkshan ennu vilikkunna meosis allengil maittosis samayat chromosomukalude thettaaya vitharanam moolamaanu tetrasamy saadhaaranayaayi sambhavikkunnath. koshavibhajanam saadhaaranayaayi sambhavikkumbol, oro makaludeyum koshathinu oro chromosominteyum oru cheria kaiyum oru neelamulla kaiyum labhikkunnu. ennirunnaalum, eee prakriyayile pishakukal oru dotter sellinu chromosome 9 nte rund cheria kaikal labhikkaan idayaakkum, athesamayam mattu sellinu rund neelamulla kaikal labikkum. ithe kaikal pinneedu oru centromere vazhi bandhippichirikkunnu. mikka kesukalilum, 9p-yude isochromosomukalil dicentric chromosome ennu vilikkunna rund centromereukal adangiyirikkunnu.
koshavibhajanathil ninnu swathanthramaayi tetrasomy roopeekarikkaanum kazhiyum. chromosome 9-nte cheria kaiyile eratta strended breakkukal thettayi nannakkappettekkaam, athinte falamaayi orotta centromere upayogichu 9p-yude isochromasominte roopeekaranam undaakunnu. koshavibhajana samayat eee isokromosome kaimaran kazhiyum.
mosaisijam.
mikka kesukalilum, rogabadhitharaaya vyakthikal avarude shareerathile ellah koshangalilum tetrasomy vahikkunnu. ennirunnaalum, chila aalukalkk avarude chila tissuekalil tetrasomy undengilum mattullavayil illa; ithine syndrominte mosaik roopam ennu vilikkunnu, ithu palappozhum gurutharamaaya lakshanagal kuraykkunnu. muttakaludeyo beejatthinteyo roopeekaranasamayathu asaadhaaranamaaya chromosome verthirikkalinte falamaanu noonn-mosaic tetrasomy 9pii. ithinu vipareethamaayi, mosaik roopam palappozhum bhroona vikasanathinte thudakkathil sambhavikkunna oru nondisanchakshan sambhavathinte falamaanu. mosaik roopathil baadhikkappedunna tissuekkalude tharavum ennavum valarunna bhroonathinullile asaadhaarana vibhajanathinte samayatheyum sthaanatheyum aasrayichirikkunnu.
roganirnayam.
jananashesham, shishuvinte rakthathile galactose-1-phoosphett uridile transferase (galt) pravartthanam alakkunnu. 9pii chromosomil encode cheytha oru proteinaan galtine niyanthrikkunnath, athinaal galt pravartthanatthinte kramarahithamaya alavu oru adisthaana chromosomal asaadhaaranathaye soochippikkaam. asaadhaaranamaaya falangalkku sesham raktham, charmmam, ullile kavil koshangal ennivayude vishakalanam, saadhaaranayaayi fluorescence inn sittu hybridisation vazhi, janithaka kaunsilarmaare koshangalude chromosomal ghadana shaareerikamaayi kaanaan anuvadikkunnu. tetrasomy athinte mosaik roopathilundo ennu nirnnayikkaan onniladhikam tissue tharangalude vishakalanam aavasyamaanu. tetrasomy 9pii sthireekarikkappettaal, shareerathile badhita koshangalude anupatham kanakkaakkunnathin adhika tissue tharangalude chromosomal vishakalanam nadatthaam.
pravachanam.
tetrasomy eathenkilum roopamulla vyakthikalude phalam valare vyathyaasappettirikkunnum, mosaik allatha roopamullavare apekshichu mosaik vyakthikal sthiramaayi kooduthal anukoolamaaya phalam anubavikkunnu. rogabadhitharaaya chila sisukkal jananathinu thottupinnaale marikkunnu, prathyekichu noonn-mosaik tetrasomy ullavar. pala rogikalum prathyulpaadana praayam vare athijeevikkunnilla, mattullavarkk oru schoolilo jolisthalatho thaarathamyena saadhaarana reethiyil pravartthikkaan kazhiyum. neratheyulla roganirnayavum edapedalum roganirnayathil sakthamaaya gunaparamaaya swaadheenam cheluthumennu theliyikkappettittund.
aavarthana apakadasaadhyatha.
tetrasomy 9pii saadhaaranayaayi paarambaryamaayi labhikkathathinaal, oru dambathikalkku eee thakaraarulla randaamathe kunju undakanulla saadhyatha valare kuravaanu. rogikal palappozhum prathyulpaadana praayam vare athijeevikkunnillenkum, angane cheiyunnavar phalabhooyishtaraakukayo illaathirikkukayo cheyyaam. oru rogiyude kuttikk eee takaraar paarambaryamaayi labhikkanulla saadhyatha pradhaanamaayum vyakthiyude kesinte vishadaamshangale aasrayichirikkunnu.

