Ma imos Chromosomal Deletion Syndrome?
Context:Chromosomal deletion syndromes eqqal iddikud n askut n ichrutan n chromosomes Dǎɣ asikin ən edag, ən təmɣare, əd wa atwagrawan dǎɣ təɣəssa, ilant iyad əmikan abdanen atiwazaynen ən təɣəssa ən chromosome. Chromosomal deletion syndromes ahan ti deletation tan maqqornen addobat nen akayad s karyotyping Iddikud madroynen n asukni idalan s Microdeletion Syndrome, s addobat awikkal n fluorescence in situ hybridization (FISH)  Almital tan n chromosome deletion syndromes eha 5p-Deletion (cri du chat syndrome), 4p-Deletion (Wolf-Hirschhorn syndrome), Prader-Willi syndrome d Angelman syndrome
Chromosomal deletion syndromes eqqal iddikud n askut n ichrutan n chromosomes Dǎɣ asikin ən edag, ən təmɣare, əd wa atwagrawan dǎɣ təɣəssa, ilant iyad əmikan abdanen atiwazaynen ən təɣəssa ən chromosome. Chromosomal deletion syndromes ahan ti deletation tan maqqornen addobat nen akayad s karyotyping Iddikud madroynen n asukni idalan s Microdeletion Syndrome, s addobat awikkal n fluorescence in situ hybridization (FISH)  Almital tan n chromosome deletion syndromes eha 5p-Deletion (cri du chat syndrome), 4p-Deletion (Wolf-Hirschhorn syndrome), Prader-Willi syndrome d Angelman syndrome  Təmusne ən chromosomique ən syndrome wan Cri du chat taqal atwigaz ən tasaga ta togarat ən samando ən əmik wa ogaran tizune ən chromosome 5. 5p deletions, kuddeɣ as aqqalan win samando meɣ interstitial, taj in daɣ breakpoints izlaynen; tijittawt n chromosome taqqal daɣ ijjit n asukni fal achrut andarran n chromosome 5 Anmizlay wa id erawan addinat addobat ad ijja fal anmizlayan n genotype tan nasan Dǎɣ aśahat ən 1 dǎɣ 15,000 har 1 dǎɣ 50,000 ən tiwidatnen, eqal atiwagan sund iyat dǎɣ torhinawen ən génétique taśohet ta togarat atwigrawan. 5p deletions amosan a ojjaran a ehan de novo, s eqqal s data daɣ 80 har 90% n idagan, addobat a id izjar id chromosome breakage alwaq wan teɣare n gamete daɣ meddan  Almital tan n samalan n dysmorphic addobat nen aqqalnen: ifrinkittan n palpebral s afalla, ehandag maqqoran n tamudrert, microcephaly, tazzurt n awalan, preauricular tags, udem ezzaran, tazzurt n taɣelit, micrognathia, d malocclusion dental, hypertelorism, epicanthal folds, ihandagan n em s afalla War t illa tartit tijat jir iddikud n afanaz d tigdaht n samalan win assexat fal as ittusan amosan a izlayan hullan  Təmusne ən chromosomique tan syndrome wan Wolf-Hirschhorn (WHS) taqalat dǎɣ afanaz ən tasaga ta togarat ən samando ən əmik wa ogaran tizune ən chromosome 4. Iddikud n addinat wi idaynen eqqal achrut n tazune n arm wan p, itaj in daɣ band tan win 4p15.1-p15.2 Alxadud wan WHSCR eqqal s 1.9 megabase terminal deletion n 4p16.3 Allele wen ehay candidate genes LEMT1 d WHSC1 Awen atiwazay fal issin addinat wi issiknanen 4 n titbaqqa n WHS phenotype wan ammas, eha s sicentist tan musnat n loci tan n gene tan wi idasnen Ifirjan ajjotnen idlajan hullan daɣ akayad n edey wan craniofacial (tajililwăyt tazzarat, hypertelorism, tamăšɣult ta maqqorat n amăne tijja s tajililwăyt) eway id isim n afissar n <unk>Greek warrior helmet appearance".  Ille asidutti ajjen as WHS core phenotype (awikkas n tiw-at, iban tigdaht n ta-ite, tiw-at d samalan n craniofacial izlaynen) ijja fal haploinsufficiency n gene tan ajjotnen osaɣan hullan ohun gene iyyan Gene tan oɣadnen wi idasnen amutti eha:  WHSC1 eha edag n 90 kb n genome, issin daɣ karad daɣ awa ehan samalan n telomeric n WHCR; WHSC1 addobat ad ila alxidmat maqqorat daɣ efes n awadim Aśuhu ənes adobat adiqil aygan dǎɣ əhenoɗɗype wan WHS. Hak id ijja awen, anmizlay daɣ anmizlay d phenotype n WHS allaɣat alxidmaten n gene tan wi ahanen edes d ajjama n WHSCR WHSC2 (s itawan NELF-A) osaɣ id titbaqqa ajjotnen n asidu n mRNA d cell cycle SLBP, gène wa idakalnen Stem Loop Binding Protein, eqqal telomère fal WHSC2 tolas eqqal harat assohen daɣ amukin n synthèse d tiw-at n histone daɣ S phase LETM1 eqal dazaran atiwagan sund gène atiwafan fal təmotayen; əšiɣilan dǎɣ asimiki ən ion dər əšiɣilan aśohatnen dǎɣ asinihigi ən əelluletan əd igitan ən énergie. FGFRL1, eɣran s fibroblast growth factor decoy receptor, eqqal fal craniofacial phenotype d samalan iyyad n iɣasan d tišijrit n WHS CPLX1 eqal ayknan amaradǎɣ sund gène atiwasan ye eɣaf dǎɣ WHS.  Prader-Willi (PWS) d Angelman syndrome (AS) aqqalan aɣašad n neurogenetic izlayan id eraw nen chromosomal deletions, uniparental disomy meɣ afanaz n majrad n gene daɣ rejion 15q11-q13 A fal awadim isassaɣraw PWS meɣ AS ilkam i a fal war ti illa gene wa id izjar s data i ad ijji i rejion  PWS eqal agudiyan atiwagrawan sund tidit ən aśuhu wasisin ən təbiɗawen fal hiperfagie taśohet - təwaƭ winan eqel ašahat ən aśuhu ən šiška. Illan ti karad iddililan n molecule tan n efes n Prader-Willi syndrome Iyyan daɣ awen eha micro-deletions n rejion tan chromosome 15q11<unk>q13 70% n addinat wi ilanen 5<unk>7- MB de novo daɣ rejion tan win edes n chromosome 15 wan abba Anomalie wan issin eɣnan daɣ etari (~ 25% har 30% n idagan) eqqal disomy n chromosome 15 n amada Təmusne taqal atiwagan fal iba ən miéotique ən masnat, darat awen dǎɣ afanaz ən mitotique ən chromosome 15 ən masnat darat təwaƭ. Wa eqqalan iddilil wan kᾰl PWS eqqal aśuhu nᾰtiwᾰkkiyᾰn fᾰl ᾰlwᾰq wa-s-itawanna ᾰddinᾰt fᾰl kromosome 15 (epigenetic phenomena). Awen aśahat eqal atilan dǎɣ ihomiši 2 <unk> 5% ən adinat atiwafanen. Iddikud andarran n 20% n addinat wi ilanen semɣar war n oɣed ilan afanaz andarran daɣ rejion wan ammas n PWS, ehan edag wan 5' n gene SNRPN  AS eqqal aɣašad assohen n efes n ta-ite eqqalan s iban akarach n ta-ite, iban almaɣna n majrad, tadlimt, iban alxidmat n motorik d iddikud n autism Eɣanni wan tizarat n asuj wan etari eqqal a assohen fal as rejion n chromosome 15 eha achareɣa eqqalan a fal ijja majrad n tizarat, almaɣna net as i iddikud n gene tan daɣ rejion wen, almaɣna iyyan n gene itaj alwaq wa id wa yadan eɣna s imprinting Dǎɣ gènetan wi atwagrawnen dǎɣ PWS, eqal əmik wan maman wa eqalan agudiyan aygan (ad aqalan aygašan), agudendǎɣ əmik wa ədad wa amutayan winan eqel ayfan.