Chii Chinonzi Chromosomal Deletion Syndrome?
Context:Chromosomal deletion syndromes inokonzerwa nokurasikirwa nezvikamu zvema chromosomes. Zvichienderana nenzvimbo yacho, kukura kwayo, uye kuti kubviswa kwacho kunobva kuna ani, pane misiyano mishomanana inozivikanwa yokubviswa kwechromosome. Chromosomal deletion syndromes inowanzobatanidza kubviswa kwakakura kunoonekwa uchishandisa nzira dze karyotyping. Kuderedzwa kuduku kunoguma neMicrodeletion syndrome, iyo inoonekwa uchishandisa fluorescence in situ hybridization (FISH)  Mienzaniso yechromosomal deletion syndromes inosanganisira 5p-Deletion (cri du chat syndrome), 4p-Deletion (Wolf<unk>Hirschhorn syndrome), Prader<unk>Willi syndrome, uye Angelman syndrome.
Chromosomal deletion syndromes inokonzerwa nokurasikirwa nezvikamu zvema chromosomes. Zvichienderana nenzvimbo yacho, kukura kwayo, uye kuti kubviswa kwacho kunobva kuna ani, pane misiyano mishomanana inozivikanwa yokubviswa kwechromosome. Chromosomal deletion syndromes inowanzobatanidza kubviswa kwakakura kunoonekwa uchishandisa nzira dze karyotyping. Kuderedzwa kuduku kunoguma neMicrodeletion syndrome, iyo inoonekwa uchishandisa fluorescence in situ hybridization (FISH)  Mienzaniso yechromosomal deletion syndromes inosanganisira 5p-Deletion (cri du chat syndrome), 4p-Deletion (Wolf<unk>Hirschhorn syndrome), Prader<unk>Willi syndrome, uye Angelman syndrome.  Mhinduro yechromosomal yeCri du chat syndrome inosanganisira kubviswa kwechikamu chokupedzisira chechikamu chiduku chechromosome 5. 5p deletions, ingava terminal kana interstitial, inoitika panguva dzakasiyana breakpoints; chromosomal hwaro kazhinji kunosanganisira deletion pamusoro pfupi ruoko chromosome 5. Kusiyana-siyana kunoonekwa pakati pevanhu kungava kunokonzerwa nokusiyana kwemarudzi avo. Nechiitiko che1 mu15,000 kusvika ku1 mu50,000 vanoberekwa vari vapenyu, kunokarakadzwa kuva chimwe chezvinetso zvakapararira zvikuru zvokuparadzwa kwegen. 5p deletions ndiyo inowanzoitika de novo, iyo inobva kuna baba mu80~90% yematambudziko, zvichida inobva pakuputsika kwechromosome panguva yekugadzirwa kwe gamete muvarume.  Mimwe mienzaniso yezvinhu zvingangoita zvisingaiti ndeinotevera: kutsvedza kwemakwenzi epalpebral, bhiriji rakakura remhino, microcephaly, nzeve dzakadzika, preauricular tags, zviso zvakakomberedza, mutsipa mupfupi, micrognathia, uye mazino malocclusionhypertelorism, epicanthal folds, makona emuromo akadzikira. Hapana kuwirirana kwakananga kwakawanikwa pakati poukuru hwokurasikirwa noukukutu hwezvinhu zvokurapa nemhaka yokuti migumisiro yacho inosiyana zvikuru.  Hwaro hwechromosomal hweWolf- Hirschhorn syndrome (WHS) hunosanganisira kubviswa kwechikamu chokupedzisira chechikamu chipfupi chechromosome 4. Chikamu chakabviswa chevanhu vakashumwa chinomiririra inenge hafu yep ruoko, chinoitika distal kune mabhendi 4p15.1-p15.2. Muganhu wepedyo weWHSCR wakatsanangurwa ne1.9 megabase terminal deletion ye4p16.3. Allele iyi inosanganisira majini anonzi LEMT1 uye WHSC1. Izvi zvakazivikanwa nevanhu vaviri vairatidza zvikamu zvose zvina zvechinhu chikuru chinonzi WHS phenotype, izvo zvakabvumira masayendisiti kutsvaka nzvimbo dzemajini akadzimwa. Mishumo mizhinji inonyanya kushamisa muchitarisiko chechimiro checraniofacial (chiso chinobuda pachena, hypertelorism, bhiriji rakakura romhuno rinopfuurira kuchiso) icho chakatungamirira kurondedzero yeshoko rokuti <unk>chitarisiko chehombodo yomurwi wechiGiriki".  Pane uchapupu hwakawanda hunoratidza kuti WHS core phenotype (kukura kunonoka, kuremara kwepfungwa, kurohwa, uye zvimiro zvecraniofacial) zvinokonzerwa nehaploinsufficiency yemajini akati wandei akabatana zvakanyanya kusiyana nejeni rimwe chete. Majini akafanana anokonzera kusiyana-siyana anosanganisira:  WHSC1 inotambanudza nharaunda ye90-kb genomic, zvikamu zviviri kubva muzvitatu zvayo mepu mu telomeric mugumo weWHCR; WHSC1 inogona kutamba basa rakakosha mukukura kwakanaka. Kunyangarika kwaro zvimwe kunoparira WHS phenotype. Zvisinei, misiyano mukunyanya uye phenotype yeWHS inoratidza mabasa anobvira nokuda kwemajini ari pedyo uye ari kure neWHSCR. WHSC2 (inozivikanwawo seNELF-A) inobatanidzwa mumativi akawanda ekugadzira mRNA uye kutenderera kwesero SLBP, inonzi Stem Loop Binding Protein, inogara telomeric kuWHSC2, uye inoita basa rinokosha mukugadzirisa histone synthesis uye kuwanika panguva yeS phase. LETM1 yakatanga ichinzi ndiyo inokonzera kuzvimba; inoshanda mukutsinhana kwemaion uye inogona kuita basa rinokosha pakugadzirwa kwemasero uye kugadzirwa kwesimba. FGFRL1, inonyora inonzi fibroblast growth factor decoy receptor, yakabatanidzwa mu craniofacial phenotype uye zvimwe zvingangoita skeletal features, uye kupfupika kweWHS. CPLX1 ichangobva kutaurwa nezvayo sechinhu chinogona kukonzera pfari muWHS.  Prader<unk>Willi (PWS) uye Angelman syndrome (AS) zvirwere zvakasiyana-siyana zveuropi zvinokonzerwa nekubviswa kwema chromosomes, uniparental disomy kana kurasikirwa kwechiratidzo chemajini mu15q11-q13 nharaunda. Kana munhu achiratidza PWS kana AS zvinoenderana kana paine kushomeka kweiyo paternally inoratidzwa gene kuti ibatsire mudunhu. [ citation inodiwa ]  PWS inowanzonzi ndicho chikonzero chokufutisa kwechipiri kunokonzerwa nokuvamba nokukurumidza kwehyperphagia - kuwedzera kusiri kwomuzvarirwo kwechido chokudya. Pane zvikonzero zvitatu zvinozivikanwa zvemamolecular zvokukura kwePrader-Willi syndrome. Chimwe chazvo ndechokudzimwa-dzimwa kwezvikamu zviduku zvechromosome 15q11<unk>q13. 70% yevarwere vane 5<unk>7- Mb de novo deletion munharaunda yepedyo yepa chromosome yababa 15. Chechipiri chinowanzokonzerwa nechirwere chemajini (~ 25<unk>30% yezviitiko) kusaruramisira kwechromosome 15 kunobva kumubereki mumwe chete. Nzira yacho inokonzerwa nokuvhiringidzwa kwechibereko chaamai kunoteverwa nokurasikirwa kwechibereko chababa pashure pokubereka. Chikonzero chechitatu chePWS ndiko kukanganiswa kwegadziriro yokudhinda pa chromosome 15 inopfuudzwa kuna baba (epigenetic phenomena). Uku kukanganiswa kunowanikwa muvanhu vanenge 2 kusvika ku5% yevanenge vabatwa nechirwere ichi. Vashoma pane 20% yevanhu vane chakaremara pakuisa mavara vakawanikwa vaine kushaikwa kuduku zvikuru munzvimbo inonzi PWS imprinting centre, iri panoperera 5' yegene inonzi SNRPN.  AS chirwere chakakomba chinopedza simba chinokanganisa kukura kwetsinga chinoratidzirwa nokuremara kwepfungwa, kunetseka kutaura, kuora mwoyo, kusashanda zvakanaka kwemotokari, uye kuwanda kwakanyanya kweautism. Nzvimbo inobva kuna baba yezvinyorwa zvemajini zvinokanganiswa muchirwere ichi inokosha nokuti nharaunda chaiyo yechromosome 15 inobatanidzwa inenge iri pasi pechiratidzo chomubereki-wokutanga, zvichireva kuti nokuda kwenhamba yemajini ari munharaunda iyi, kopi imwe chete yejeni inoratidzwa nepo imwe yacho ichinyararidzwa kupfurikidza nechiratidzo. Nokuda kwegene rinopesvedzerwa muPWS, ikopi yaamai ndiyo inowanzopesvedzerwa (uye nokudaro inonyaradzwa), nepo kopi yababa yakashanduka isingashandi.