dowers-peaters syndrome

dowers-peaters syndrome, jise chhota qada, chehare kii vikriti, gambhir brachydactyly aur syndactly key roop mein bhee jaanaa jaataa haye, ack asadharan roop seey durlabh naveen aanuvanshik vikaar haye jisaki visheshta ack chhoti oonchaai, avasaadgrast naak kaa pull, sapaat chehare, oopar kii or jhukane vaali aankhen, halke nasika poorvavarti, cumm sett vaale kaana, chaude naak kii jarh, gambhir saamaanyikrit haath brachydactyly aur dusare-teesare pair kii anguli syndactly haye. atirikt visheshtaon mein azospermia, radial aur alner dysplasia aur paddle symphlangism key kaaran baanjhapan shamil haye. yeh vikaar behad durlabh haye, kyonki chikitsa saahitya mein kewal 1 mamla saamane aaya haye. yeh sthiti gunasutra sthanantaran key kaaran hoti haye.
ateology.
iss sthiti kii khoj julaai 2007 mein dowers aitt all dwara kii gaee thee.", jaba unhone indoneshiyai mool key ack 35 varsheeya vyakti kaa varnan kiya. oopar bataae gaye sabhi lakshan unake they. ack baat dhyaan dene yogya haye kii unake maataa-pitaa swasth they aur raktaheen naheen they aur unake paanch bhaai-bahan bhee swasth they. jaba usa parr gunasutra vishleshan kiya gayaa, tou ack dee novo gunasutra sthanantaran kii khoj kii gaee; iss sthanantaran mein gunasutra 4 (4 kyu 12) key kyu 12 kshetra aur gunasutra 6 (6 pee 23) key pee 23 kshetra shamil they. sthanantaran mein maanav genome mein dou gunasutra khandon kaa ack nae sthaan mein parasparik parivartan shamil haih ack khand khud koo usa sthaan parr sthit kartaa haye jahan doosara khand huaa kartaa thaa aur isake vipareet (iss mamle mein, 4p12 khand usa sthaan parr haye jahan 6p23 sthanantar seey pahale huaa kartaa thaa aur isake vipareet).

