roberts syndrome

roberts syndrome, kinwa kadhikadhi seudothalidomide syndrome mhanoon olakhala jaanara, haah eka atyant durmil autosomal recessive janukeey vikar aahe jyache vaishishtya mhanje saumya teey gambhir prasutipoorv mandata kinwa peshi vibhaganimadhye vyatyay yene, jyamule kavati, chehara, haat aanee payanmadhil hadanmadhye vikrutee hote.
heey sadhya janukatil utparivartanamule hote. haah eka durmil autosomal recessive vikar aahe, joou sumare 150 dnyat vyaktinna prabhavit karato. utparivartanamule peshinchi vibhagani haloohaloo kinwa asamanpane hote aanee asamanya anuvanshik samagri asalelya peshi martat.
roberts syndrome purush aanee striya doghannahi prabhavit karoo shakato. haah vikar durmil asala taree, prabhavit gut vaividhyapurn aahe. gambhirpane prabhavit vyaktinmadhye mrutyuche praman jaast aahe. yaa lakshansamuchchayala american shalyachikitsak aanee vaidya johnn bingham roberts (1852-1924) yanche naav denyat aale aahe, jyanni 1919 madhye pahilyanda yache varnan kele hote.
lakshane aanee chinhe.
roberts syndromeshy sambandhit asalelya lakshananchi yadee khalilpramane aaheh
roberts syndromene gambhirpane prabhavit jhalelyanmadhye mrutyuche praman jaast aahe; tathapi, saumyapane prabhavit vyakti praudhatvaparyant tiku shakatat
aanuvanshikta.
manvi gunasutra 8 varr sthit asalelya esco 2 laa roberts syndromesathi jababdar januk mhanoon label kele gele aahe. kharey tarr, eae. ess. see. oo. 2 heey ekmev dnyat januk aahe jyane aar. bii. ess.-nirman karnare utparivartan darshavile aahe. tasech, jyaa serve vyaktinna roberts syndromeche cytogenically nidan jhaale aahe, tyanchya eae. ess. see. oo. 2 janukamadhye dekhil utparivartan jhaale aahe.
roberts syndromecha sansarg honyasathi, mulala sadosh januk autosomal recessive paddhatine varshane milane aavashyak aahe. aadhi) shabdant, mulala sadosh janukachya done pratee (pratyek palkankadun eka) varshane midayala havya. roberts syndromechya rugnanmadhye peshinchya vibhaganivar sadhya janukacha vishisht parinam hoto. samanya peshi vibhajanamadhye, pratyek gunasutrachi nakkal kelee jaate aanee nantar centromearvar (gunasutracha madhya bhag) tyachya navyane tayar jhalelya pratishi jodali jaate. tathapi, roberts syndrome peshi vibhagat, pratee varanvar centromearvar jodalya jaat naheet. parinami, gunasutra yogya prakare ranget basat naheet, jyamule peshi khoop haloohaloo vibhajit hotat kinwa agadi ajibat vibhajit hott naheet. naveen peshinmadhye samanyatah khoop jaast kinwa khoop qamee gunasutra asatat. gunasutranchya visham sankhyemule sadosh peshi martat, jyamule roberts syndromeshy sambandhit vikrutee hotat.
roberts syndromeshy sambandhit anek sharirik vikrutee, jyaa mulanchya matanni garbhadharanedarmyan thalidomide ghetale aahe, tyaa mulanmadhye mulanmadhye vikrutinshi khoop samya aahet. bhautik samanata soochit karatat qee sadhya aanee thalidomide yanchyat samaan antarnihit jivashastra aahe. parinami, assa andaj lavala jaato qee thalidomide gunasutranvar aanee peshinchya vibhaganivar vibhaganivar parinam karato. yaa karanastav, roberts syndromela kadhikadhi seudothalidomide syndrome mhanatat.
syndromecha shodh.
roberts syndromemule prabhavit jhalelya pandhra kutumbanmadhil namunyancha abhyas karoon roberts syndromesathi jababdar januk mhanoon esco 2 chaa shodh lavala gela. 1995 madhye, done columbian janukshastradnya hugo vega aanee miriam gordillo yanni roberts syndrome purnapane samajoon ghenyasathi suruvat kelee. universidade nacional dii colombiamadhye roberts syndromechya rugnanchi sankhya asamanyapane jaast asalyache vega aanee gordillo yanchya lakshat aale. done columbian janukshastradnyanni bogotyachya agadi baher roberts syndrome asalelya ekoon saat kutumbancha magova ghetala aanee satpaiki chaar kutumbe 18 vya shatkatil samaan purvaj aahet asey shodhun kadhale. hii mahitee vaparoon, vega aanee gordillo roberts syndromesathi jababdar januk nishchit karoo shakale, jeey ess. see. oo. 2 hote.
nidan.
naidanik nidan.
prasutipoorv vaadh mandavane, avayavanchi vikrutee aanee chraniophacial vikrutee asalelya vyaktinmadhye roberts syndromeche vaidyakeey nidan kele jaate. vaidyakeey nidanat shodhali jaanari vishisht vaishishtye khalee soochibaddha kelee aahet.
roberts syndromeche adhikrut nidan paridhiy raktachya cytogenetic chachanivar avalambun asate.
chachani.
cytogenetic chachani.
eka tarr gamesa kinwa see-banding tantranni rangavalelya cytogenetic tayarimadhye done vaishishtyapurn gunasutriy vikrutee disun yeteel. pahilya gunasutra vikruteela akali centromere pruthakkaran (pii. see.) mhanatat aanee roberts syndromesathi hii sarvat sambhavya rogkarak yantrana aahe. peesi asalelya gunasutranmadhye tyanche centromerase metafagechya darmyan enafejaivaji vegale asateel (samanya gunasutranpeksha eka tappa aadhi). aadhi) gunasutra vikruteela heterochromatin pratikarshan (etch. aar.) mhanatat. etch. aar. asalele gunasutra metafage darmyan vishamvarniy pradeshanche pruthakkaran anubhavtat. vishamvarniy pradeshanmadhye prathamik aakunchan aanee vikarshan naslyamule yaa done vikrutee asalelya gunasutranmadhye 'railwaymarg' disun yeil. vishamvarniy pradesh heey kendrak aanee kendrak aayojkanchya jawalche bhag aahet. vahak sthitee cytogenetic chachanidware nirdharit kelee jaau shakat nahee. roberts syndromechya rugnanvar cytogenetic chachaniche itar samanya nishkarsh khalee soochibaddha aahet.
anuvanshik chachani.
yaa velee, roberts syndrome utparivartan ghadavun aananare sadhya heey ekmev dnyat januk aahe. tasech, cytogenetic tantrandware roberts syndromeche nidan jhalelya serve vyaktinmadhye dekhil sadhya utparivartan jhaale aahe. roberts syndromechya nidanachi pushti karnyasathi vaishishtyapurn gunasutra vikrutee (peesi aanee hr) shodhane kinwa roberts syndromeshy sambandhit asalelya done sadhya utparivartananchi olakh patvane aavashyak aahe.
vahak chachani aanee prasutipoorv nidan.
roberts syndromechya vahak chachanisathi kutumbatil rog-nirman rog-nirman utparivartanachi purv olakh aavashyak aahe. rogachya autosomal recessive swarupamule yaa vikarache vahak heterozygotes aahet. vahakanna swatah roberts syndromecha sansarg honyacha dhoka dekhil nasato. roberts syndromechya prasutipoorv nidanasathi cytogenetic chachani kinwa kutumbatil rog-nirman rog-nirman esco 2 utparivartananchi purv olakh karoon denyasathi ultrasound tapasanichi aavashyakta asate.
anuvanshikdrushtya sambandhit vikar.
sadhya, sadhya janukatil utparivartanansathi itar konatehi phenotype (janukachi nirikshan karnyayogya abhivyakti) sapadale naheet.
vibhedak nidan.
saumya vikrutichya prakarananmadhye, vibhedak nidanamadhye khaleel vikarancha vichar keela pahijeh
gambhir abhivyaktinchya prakarananmadhye, vibhedak nidanamadhye khaleel vikarancha vichar keela pahijeh
samaan cytogenetic nishkarshanchya prakarananmadhye, vibhedak nidanamadhye khaleel vikarancha vichar keela pahijeh
vaidyakeey varnan.
tyachya vyapak vaidyakeey badalanmule roberts syndromechya naisargik itihasabaddal phaar qamee mahitee aahe. rogacha andaj haah vikrutinvar avalambun asato, kaaran vikrutinchi tivrata jaganyashi sambandhit asate. roberts syndromechya bahutansh mrutyunche kaaran nondavale gele nahee; tathapi, paach mrutyu sansargamule jhalyache sangitale jaate.
pii. see./etch. aar. kinwa aii. ess. see. oo. 2 utparivartananche cytogenetic nishkarsh asalelya vyaktinmadhye khaleel nirikshane kelee gelee aaheth
upchar.
roberts syndromever upchar vaiyaktik aahet aanee visheshtah yaa vikarane grast asalelyanchya jivanacha darja sudharnyachya uddeshane kele jaatat. kahee sambhavya upcharanmadhye khaleel goshtincha samavesh hotoh fatalele oth aanee talhu yanchi shastrakriya, avyavanchya vikrutinmadhye sudharana (shastrakriyedvare dekhil) aanee haat pakadanyachya purvasthitit sudharana.
prasar.
roberts syndrome hii eka atyant durmil sthitee aahe jee keval sumare 150 nondavalelya vyaktinna prabhavit karate. jaree keval 150 prakarane nondavali gelee asali taree, prabhavit gut khoopach vaividhyapurn aahe aanee jagbharat pasarla aahe. yaa anuvanshik vikarasah palakanchi raktavahinya (aaee-vadilancha jawalcha sambandh aahe) samanya aahe. roberts syndrome vahakanchi varanvarta adnyat aahe.
namkaran.
roberts syndromela dow. filadelfiyache johnn bingham roberts (1852-1924), jyanni 1919 madhye rogachi vaishishtye nondavali. roberts yanni eka rogachi nond kelee jee phokomeliya, fatalele oth, fatalele talhu aanee italian jodpyachya teen bhavandanmadhye aantar-maxillary pradeshacha baher padane yasarkhya vaishishtyandvare darshavili gelee hotee. italian jodape pahile chulat bhau hote, jyamule autosomal recessive swarupachya aajaranmule tyanchya mulansathi roberts syndromechi shakyata jaast hotee.
nantar, 1969 madhye, jeey. harmanane roberts syndromeshy khoop samaan vaishishtyansah aanakhi eka syndromeche varnan kele. herman yaa vikarala seudothalidomide syndrome kinwa ess. see. syndrome mhanayacha (ess. see. haah harmanane abhyas kelelya done kutumbanchya aadananchya aadyaksharansathi hota). aaj, roberts syndrome aanee seudothalidomide syndrome (ess. see. syndrome) haah samaan vikar manla jaato.
roberts syndromesathi vaparlya gelelya serve paryayi navanchi yadee khalilpramane aaheh

