 chromosomal deletion syndrom antey emti ?
 chromosome ‌ l tholagimpu syndrom ‌ lu chromosome ‌ l bhagalanu tholaginchadam will erpadatayi .  sthaanam ,  parimaanam mariyu tholagimpu vaarasatvamgaa evari nundi pondabadindi anedaanipai aadhaarapadi ,  chromosome tolagimpula yokka konni vibhinna vaividhaylu unnayi .  chromosome tholagimpu syndrom ‌ lu saadharanamga caryotyping paddhatulanu upayoginchi kanipincha peddha tolagimpulanu kaligi untai .  chinna tolagimpulu microdelition syndrom ‌ ku dhaaritheesthaayi ,  ivi fluorescence in situ hybridisation  (FISH)  upayoginchi gurtinchabadataayi .

 chromosomal deletion syndrom ‌ laku udaaharanalu  5p- deletion  ( kri du chhath syndrom ), 4p- deletion  ( wolf - hirsh ‌ horn syndrom ),  prader - villie syndrom mariyu anjel ‌ man syndrom .
 chromosome ‌ l tholagimpu syndrom ‌ lu chromosome ‌ l bhagalanu tholaginchadam will erpadatayi .  sthaanam ,  parimaanam mariyu tholagimpu vaarasatvamgaa evari nundi pondabadindi anedaanipai aadhaarapadi ,  chromosome tolagimpula yokka konni vibhinna vaividhaylu unnayi .  chromosome tholagimpu syndrom ‌ lu saadharanamga caryotyping paddhatulanu upayoginchi kanipincha peddha tolagimpulanu kaligi untai .  chinna tolagimpulu microdelition syndrom ‌ ku dhaaritheesthaayi ,  ivi fluorescence in situ hybridisation  (FISH)  upayoginchi gurtinchabadataayi .

 chromosomal deletion syndrom ‌ laku udaaharanalu  5p- deletion  ( kri du chhath syndrom ), 4p- deletion  ( wolf - hirsh ‌ horn syndrom ),  prader - villie syndrom mariyu anjel ‌ man syndrom .

Cri du  chhath syndrom yokka chromosome praathipadhika chromosome  5  yokka chinna cheeyi yokka athantha terminal bhaagam yokka tholagimpunu kaligi umtumdi . 5p  tolagimpulu ,  terminal ledha inter ‌ steasial ayinava ,  vaervaeru brake ‌ paayint ‌ lalo jaruguthai ;  chromosome praathipadhika saadharanamga chromosome  5  yokka chinna cheyipai tholagimpunu kaligi umtumdi .  vyaktula Madhya kanipincha vaividhyam vaari janyuroopaalalo tedaalaku kaaranamani cheppavacchu . 15,000 loo  1  nundi  50,000  sajiiva jananaalalo  1  sambhavam unnanduna ,  idi athantha sadarana genyu tholagimpu rugmatalalo okatiga suchinchabadindi . 5p  tolagimpulu athantha sadarana di novo sanghatanalu ,  ivi  80-90%  kesulaloo pitr sambandhamainavi ,  bahusa magavaarilo gamate erpade samayamlo chromosome vicchinnam nundi utpannamavutaayi .

 saadhyamayye diasmorphic lakshanaalaku konni udaaharanalu :  palpebrall pagullu ,  visaalamaina nasika vanthena ,  microcephaly ,  takuva - sett chevulu ,  preericular tag ‌ lu ,  gundrani mukhalu ,  potti meda ,  micrognathia mariyu dental maloclusenehpair ‌ telorism ,  epicontal madatalu ,  noti moolalu krimdhaki digadam .  tholagimpu parimaanam mariyu clinically lakshanhaala thivratha Madhya nirdishta sahasambandham edhee kanugonabadaledu endhukante phalitaalu chaaala vistrutamgaa maaruthuu untai .

 wolf - hirsh ‌ horn syndrom  (WHS)  yokka chromosome praathipadhika chromosome  4  yokka chinna cheeyi yokka athantha terminal bhaagam yokka tholagimpunu kaligi umtumdi .  nivedinchabadina vyaktula yokka tolaginchabadina vibhaagam  p  aarm ‌ loo saganiki praatinidhyam vahistundi ,  idi Banda ‌ lu  4p15 ki dooramgaa umtumdi . 1-p15.2. WHSCR  yokka proximal sarihaddu  4p16.3  yokka  1.9  megabase terminal tholagimpu dwara nirvachinchabadindi .  yea yugma vikalpamlo pratipaadita abhyardhi janyuvulu  LEMT1  mariyu  WHSC1  unnayi .  korr  WHS  phinotipe yokka motham  4  bhagalanu pradarshinchina iddharu vyaktulu dheenini gurtincharu ,  idi tolaginchabadina janyuvula sthaanaanni kanugonadaniki shaasthravetthalanu anumatinchindi .  chaaala nivedhikalu mukhyamgaa craniofacial structure  ( pramukha nudita ,  hypre ‌ telorism ,  mukku yokka visthrutha vanthena nudita varku konasaagadam )  yokka rupaanni pratyekamgaa gurtinchaayi ,  idi vivaranaatmaka padhaniki dhaaritheesindhi  " greeku yodhudu helmait pradarsana ".

WHS  korr phinotipe  ( edugudala aalasyam ,  meedhoo vaikalyam ,  moorchalu mariyu vilakshanhamaina craniofacial lakshanhaalu )  oche janyuvuku viruddhamgaa anek daggari anusandhaanita janyuvula haploine ‌ sufficiency kaaranamgaa unnatlu visthrutha sakshyam Pali .  vaividhyaanni prabhaavitam chese sambandhitha janyuvulu :

WHSC1 90-kb  janyusambandhamaina praantaanni vistarimchimdi ,  veetilo moodinta remdu vantulu  WHCR  yokka telomeric mugimpulo map cheyabadathaai ;  sadarana abhivruddhilo  WHSC1  mukhyamaina patra pooshistundi .  deeni tholagimpu  WHS  phinotipe ‌ ku dhohadham chesthundu .  ayinappatikee , WHS  yokka thivratha mariyu samalakshanamlo vaividhyam  WHSCR ki daggaraka mariyu dooramgaa umdae janyuvulaku saadhyamayye paatralanu suchisthundi .
WHSC2 (NELF-A  ani kudaa pilustharu ) mRNA  prosessing mariyu cells cykil yokka bahulha amsaalaloo paalgontundi 
SLBP,  zean ene ‌ kooding staem lupe binding protein ,  telomeric nundi  WHSC2  varku nivasistundi mariyu  S  dhasaloo histone samshleshana mariyu labhyatanu niyantrinchadamlo keelaka patra pooshistundi .
LETM1  modatlo moorchalaku abhyardhi janyuvugaa pratipaadinchabadindi ;  idi cells signalling mariyu sakta utpattilo sambhaavya paatralatho ayyaan maarpidilo panichestundi .
FGFRL1,  putative fibroblast groth factor dicoy receptor ‌ nu ene ‌ kooding cheeyadam ,  craniofacial phinotipe mariyu itara asthipanjara lakshanhaalu mariyu  WHS  yokka potti pottitanaanni kaligi Pali .
CPLX1  edvala  WHS loo muurcha choose sambhaavya abhyardhi janyuvugaa suchinchabadindi .

 prader - villie  (PWS)  mariyu anjel ‌ man syndrom  (AS)  chromosome tolagimpulu ,  uniperental desomi ledha  15q11-q13  praanthamlo mudhrinchina genyu vyakteekatana kolpovadam will kaliga vibhinna neurogenetic rugmathulu .  ooka vyakti  PWS  ledha  AS ni pradarsistaadaa anede aa praantaaniki dohadapadenduku thandri dwara vyakteekarinchabadina janyuvu lekapovadampai aadhaarapadi umtumdi .[citation needed]

 praarambha praarambha hypre ‌ fagia kaaranamgaa dviteeya sthuulakaayaaniki  PWS  tarachugaa kaaranamani kanugonabadindi  -  aahaara viniyogam choose aakalilo asaadhaarana perugudala .  prader - villie syndrom abhivruddhiki muudu paramaanhu kaaranaalu unnayi .  vatilo okati chromosome prantham  15q11-q13  yokka suukshma - tolagimpulanu kaligi umtumdi . 70%  mandhi rogulu pitr chromosome  15  yokka proximal praanthamlo  5-7-Mb  di novo tholagimpunu pradarsistaaru .  rendava tarachugaa janyuparamaina asaadhaaranata  (~ 25-30%  casulu )  chromosome  15  yokka prasoothi uniperental desomi .  phaladeekaranam tarwata pitr chromosome  15  yokka mytotic nashtam tarwata prasoothi mayotic naane - disonksion ‌ ku .  pidableues ‌ ki mudava kaaranam pitr vaarasatvamgaa sankraminchina chromosome  15 ( epigenetic drugvishayam ) pai mudrana procedure yokka antharaayam .  yea antharaayam sumaaru  2-5%  mandhi prabhaavita vyaktulalo Pali . SNRPN  janyuvu yokka  5′  chivara unna  PWS  mudrana kendra praanthamlo  20%  kante takuva mandhi vyaktulu mudrana lopamtho chaaala chinna tholagimpunu kaligi unnare .

AS  anede tiivramaina balaheenapariche neuro develope ‌ mentally desorder ,  idi mentally retardation ,  speach balaheenatha ,  moorchalu ,  motaaru panicheyakapovadam mariyu autism yokka adhika prabalyam dwara vargeekarinchabadutundi .  syndrom ‌ loo prabhaavitamaina genyu padaardham yokka pitr muulam mukyamainadhi ,  endhukante chromosome  15  yokka nirdishta prantham matri - muulam mudranaku lobadi umtumdi ,  antey yea praantamlooni anek janyuvulaku ,  janyuvu yokka ooka qaapi Bara umtumdi .  mudrinchatam dwara marokati nishabdam cheyabadinappudu vyakteekarinchabadutunda . PWS loo prabhaavitamaina janyuvulaku ,  idi saadharanamga mudrinchabadina talli qaapi  ( amduvalana nishabdam cheyabaduthundhi ),  ayithe parivartana chendina pitr qaapi pania cheeyadu .