
2q37 monosomy

2kyu37 monosomy ack durlabh aanuvanshik vikaar haye joe gunasutra 2 key anta mein ack khand key vilopan key kaaran hotaa haye.
sanket aur lakshan.
iss syndrome vaale lagbhag sabhi logon mein kuchh hudd taka bauddhik akshamta aur chehare kii vikriti (goal chehra, gahari aankhen, patale oopari honth) hoti haye. vyavhaar sambandhi samasyaaen aam hain. brachymetaflangism (metacarple yaa metatarsal shortening) kull milakar ~50% mamalon mein darj kiya jaataa haye, lekin aamtaur parr 2 saal kii umr seey cumm umr mein spasht naheen hotaa haye. hataaye gaye kshetra key aakar aur seema kaa upayog aashcharyajanak phenotypic parivartansheelta key kaaran purvanuman key vishvasaniya sanketkon key roop mein naheen kiya jaa sakata haye. kuchh rogiyon koo janmajaat hriday roga aur daure jaisi atirikt samasyaaen hoti hain.
aanuvanshiki.
iss syndrome kaa kaaran banane vaale nyuntam vilopan koo 3 megabez kshetra key roop mein paribhaashit kiya gayaa haye jisamen jee. pee. aar. 35, jee. pee. see. 1 aur aiss. tii. key. 25 jeane hotey hain.
lagbhag sabhi vilopan gunasutra 2 key anta mein antim vilopan paae jaate hain. "dee novo" vilopan kii uchch aavritti hoti haye, lekin ack hii parivaar key bheetar kaee mamle bhee dekhe jaate hain. aldrade kii shrinkhala mein maatri aur pitri roop seey praapt punarvyavasthaon key samaan anupaat dekhe gaye. hataane key liye koee samanya viram bindu naheen pehchaane gaye they joe ingit kartaa haye kii 2q37 punarvyavastha gair-samroop punarsanyojan aur cumm-pratilipi punaravritti dwara madhyasthata kii sambhavana naheen haye. 20 rogiyon key ack adhyayan mein, naidaanik visheshtaon aur monosomic kshetra key aakar yaa sthiti key beach koee spasht sambandh naheen paaya gayaa.

