Lefu la Chromosomal Deletion Syndrome ke eng?
Context:Ho tlosoa ha chromosome ho bakoa ke ho tlosoa ha likarolo tsa chromosome. Ho itšetlehile ka sebaka, boholo, le hore na ho tlosoa hona ho futsitsoe ho mang, ho na le mefuta e seng mekae e fapaneng e tsebahalang ea ho tlosoa ha chromosome. Hangata li - syndrome tsa ho tlosoa ha chromosome li akarelletsa ho tlosoa ho hoholo ho bonahalang ka ho sebelisa mekhoa ea ho etsa karyotyping. Ho tlosoa ho fokolang ho fella ka lefu la Microdeletion, le fumanoang ka ho sebelisa fluorescence in situ hybridization (FISH)  Mehlala ea li-chromosomal deletion syndromes e kenyelletsa 5p-Deletion (cri du chat syndrome), 4p-Deletion (Wolf<unk>Hirschhorn syndrome), Prader<unk>Willi syndrome, le Angelman syndrome.
Ho tlosoa ha chromosome ho bakoa ke ho tlosoa ha likarolo tsa chromosome. Ho itšetlehile ka sebaka, boholo, le hore na ho tlosoa hona ho futsitsoe ho mang, ho na le mefuta e seng mekae e fapaneng e tsebahalang ea ho tlosoa ha chromosome. Hangata li - syndrome tsa ho tlosoa ha chromosome li akarelletsa ho tlosoa ho hoholo ho bonahalang ka ho sebelisa mekhoa ea ho etsa karyotyping. Ho tlosoa ho fokolang ho fella ka lefu la Microdeletion, le fumanoang ka ho sebelisa fluorescence in situ hybridization (FISH)  Mehlala ea li-chromosomal deletion syndromes e kenyelletsa 5p-Deletion (cri du chat syndrome), 4p-Deletion (Wolf<unk>Hirschhorn syndrome), Prader<unk>Willi syndrome, le Angelman syndrome.  Motheo oa chromosomal oa Cri du chat syndrome ke ho tlosoa ha karolo e qetellang ea letsoho le lekhuts'oane la chromosome 5. Ho tlosoa ha 5p, ho sa tsotellehe hore na ke ea ho qetela kapa ea lipakeng, ho etsahala ka linako tse fapaneng; motheo oa chromosomal ka kakaretso o na le ho tlosoa ha letsoho le lekhuts'oane la chromosome 5. Phapang e bonoang har'a batho ka bomong e ka 'na ea bakoa ke ho se tšoane ha mefuta ea bona ea liphatsa tsa lefutso. Kaha lefu lena le hlaha ho ngoana a le mong ho ba 15 000 ho isa ho a le mong ho ba 50 000 ba hlahang ba phela, ho nahanoa hore ke le leng la maloetse a atileng ka ho fetisisa a ho hlakola liphatsa tsa lefutso. Ho tlosoa ha 5p ke hona ho atisang ho etsahala, ho bakoang ke ntate maemong a 80 ho isa ho 90%, mohlomong ho bakoa ke ho robeha ha chromosome nakong ea ho thehoa ha li - gamete ho banna.  Mehlala e meng ea litšobotsi tse ka 'nang tsa e-ba teng tsa dysmorphic e kenyeletsa: ho theoha ha li-palpebral fissures, borokho bo pharaletseng ba nko, microcephaly, litsebe tse tlase, li-tag tsa preauricular, lifahleho tse chitja, molala o mokhuts'oane, micrognathia, le malocclusion ea menohypertelorism, epicanthal folds, likhutlo tse theohelang tsa molomo. Ha ho na kamano e tobileng e fumanoeng pakeng tsa boholo ba ho tlosoa le ho teba ha matšoao a bongaka hobane liphello li fapana haholo.  Motheo oa chromosomal oa lefu la Wolf-Hirschhorn (WHS) ke ho tlosoa ha karolo e qetellang ea letsoho le lekhuts'oane la chromosome 4. Likarolo tse tlositsoeng tsa batho ba tlalehiloeng li emela hoo e ka bang halofo ea letsoho la p, le hlahang ka thōko ho lihlopha 4p15.1-p15.2. Moeli o haufi oa WHSCR o ne o hlalosoa ka ho tlosoa ha terminal ea 1.9 megabase ea 4p16.3. Allele ena e akarelletsa liphatsa tsa lefutso tsa LEMT1 le WHSC1. Sena se ile sa tsejoa ke batho ba babeli ba neng ba e-na le likarolo tsohle tse 4 tsa motheo oa WHS phenotype, e leng se ileng sa lumella bo-rasaense hore ba fumane sebaka sa liphatsa tsa lefutso tse tlositsoeng. Litlaleho tse ngata li hlolla haholo-holo ponahalong ea sebōpeho sa craniofacial (phatla e hlahelletseng, hypertelorism, borokho bo pharaletseng ba nko bo tsoelang pele phatleng) e leng se lebisitseng polelong e hlalosang e reng'ponahalo ea helmete ea mohlabani oa Mogerike.'  Ho na le bopaki bo bongata ba hore WHS ea mantlha ea phenotype (ho lieha ho hola, ho holofala kelellong, ho ts'oaroa, le litšobotsi tse ikhethang tsa craniofacial) e bakoa ke ho se lekane ha liphatsa tsa lefutso tse'maloa tse amanang haufi-ufi ho fapana le liphatsa tsa lefutso tse le' ngoe. Liphatsa tsa lefutso tse amanang le tsona tse susumetsang ho fapana ha liphatsa tsa lefutso li akarelletsa:  WHSC1 e na le sebaka sa liphatsa tsa lefutso sa 90kb, tseo tse peli ho tse tharo tsa tsona e leng limmapa tsa telomeric qetellong ea WHCR; WHSC1 e ka bapala karolo ea bohlokoa kholisong e tloaelehileng. Ho tlosoa ha eona ho ka 'na ha tlatsetsa ho WHS phenotype. Leha ho le joalo, ho fapana ha matla le mofuta oa WHS ho fana ka maikutlo a hore liphatsa tsa lefutso tse haufi le tse hōle le WHSCR li ka 'na tsa e - ba le karolo. WHSC2 (eo hape e tsejoang e le NELF-A) e ameha likarolong tse ngata tsa ho sebetsana le mRNA le potoloho ea sele SLBP, e leng lefutso le ngolang Stem Loop Binding Protein, e teng ka telomeric ho WHSC2,'me e phetha karolo ea bohlokoa ho laoleng ho qaptjoa ha histone le ho fumaneha nakong ea S phase. Qalong LETM1 e ile ea hlahisoa e le moemeli oa liphatsa tsa lefutso bakeng sa ho ts'oaroa; e sebetsa ka phapanyetsano ea li-ion ka mesebetsi e ka bang teng ea ho fana ka matšoao a lisele le tlhahiso ea matla. FGFRL1, e ngolisang moamoheli oa li-fibroblast growth factor decoy receptor, e 'nile ea ameha ho craniofacial phenotype le likarolo tse ling tsa masapo, le bophahamo bo tlase ba WHS. Morao tjena ho 'nile ha boleloa hore CPLX1 ke eona e ka bakang lefu la sethoathoa ho WHS.  Prader<unk>Willi (PWS) le Angelman syndrome (AS) ke mafu a fapaneng a methapo ea kutlo a bakoang ke ho tlosoa ha chromosome, uniparental disomy kapa ho lahleheloa ke polelo ea liphatsa tsa lefutso sebakeng sa 15q11-q13. Hore na motho o bonts'a PWS kapa AS ho latela hore na ho na le khaello ea lefutso le bontšitsoeng ke ntate ho kenya letsoho sebakeng seo. [ citation needed ]  Hangata PWS e fumanoa e le sesosa sa botenya bo eketsehileng bo bakoang ke ho ja haholo ho qalileng pele ho nako - e leng ho eketseha ho sa tloaelehang ha takatso ea lijo. Ho na le lisosa tse tharo tsa limolek'hule tse tsebahalang tsa ho hlaha ha lefu la Prader-Willi. E 'ngoe ea tsona ke ho tlosoa ha karolo e nyenyane ea chromosome 15q11<unk>q13. 70% ea bakuli ba na le ho tlosoa ha 5<unk>7- Mb de novo sebakeng se haufi sa chromosome 15 ea ntate. Phoso ea bobeli e atileng ea liphatsa tsa lefutso (~ 25-30% ea linyeoe) ke'mè ea nang le disomy ea chromosome 15. Mokhoa ona o bakoa ke ho se kopane ha mitotic ea'mè ho lateloang ke ho lahleheloa ke mitotic ea chromosome ea ntate ea 15 ka mor'a ho ima. Sesosa sa boraro sa PWS ke ho senyeha ha tšebetso ea ho hatisa ho chromosome 15 e futsitsoeng ho ntate (liketsahalo tsa liphatsa tsa lefutso). Tšenyo ena e etsahala ho batho ba ka bang 2 ho isa ho 5% ba amehileng. Ho fumanoe hore batho ba ka tlaase ho 20% ba nang le bothata ba ho hatisa ba na le bothata bo fokolang haholo sebakeng sa PWS se hatisang, se qetellong ea 5' ea lefutso la SNRPN.  AS ke boloetse bo matla bo fokolisang boko bo khetholloang ke ho fokola kelellong, ho se khone ho bua hantle, ho tšoaroa ke ho oa, ho se sebetse hantle ha'mele le ho ata ha autism. Tšimoloho ea ntate ea liphatsa tsa lefutso e amehileng ka lefu lena ke ea bohlokoa hobane sebaka se itseng sa chromosome 15 se amehang se tlas'a tšusumetso ea motsoali oa tšimoloho, ho bolelang hore bakeng sa liphatsa tsa lefutso tse ngata sebakeng sena, ke kopi e le 'ngoe feela ea liphatsa tsa lefutso e hlahisoang ha e 'ngoe e khutsisoa ka tšusumetso. Bakeng sa liphatsa tsa lefutso tse amehileng PWS, hangata ke kopi ea'mè e hatisitsoeng (ka hona e khutsisitsoe), ha kopi ea ntate e fetohileng e sa sebetse.