Chromosome 16 e na le liphatsa tsa lefutso tse likete. Karolo ea liphatsa tsena tsa lefutso ke ho tataisa tlhahiso ea liprotheine, e nang le likarolo tse sa tšoaneng 'meleng. Ka bomalimabe maemo a mangata a liphatsa tsa lefutso a amana le mathata a liphatsa tsa lefutso ka chromosome 16. Liphetoho sebopeho kapa lenane la likopi tsa chromosome li ka baka mathata ka bophelo bo botle le nts'etsopele.
Basics of Chromosomes
Li-chromosomes ke mehaho e tšoereng liphatsa tsa lefutso tsa hau, e fanang ka litaelo tse tataisang nts'etsopele le ts'ebetso ea 'mele. Ho na le li-chromosome tse 46, tse hlahang lihlopheng tse 23, 'me li na le liphatsa tsa lefutso tse likete. Ka hare ho e 'ngoe le e' ngoe, e 'ngoe e futsitsoe ho' mè le e mong ho ntate. Le hoja e mong le e mong a lokela ho ba le li-chromosome tse 46 seleng e 'ngoe le e' ngoe ea 'mele, li-chromosome li ka haelloa kapa li kopitsoa, tse hlahisang liphatsa tsa lefutso tse sa laeng kapa tse eketsehileng. Ts'ebetso ena e ka baka mathata ho bophelo bo botle le nts'etsopele. Maemo a latelang a chromosomal a amahanngoa le chromosome 16.
Trisomy 16
Trisomy 16, ho e-na le para e tloaelehileng, ho na le likopi tse tharo tsa chromosome 16. Ho hakanngoa hore Trisomy 16 e etsa karolo e fetang 1 lekholong ea bokhachane, e leng se etsang hore e be trisomy e tloaelehileng ka ho fetisisa bathong. Ka bomalimabe, sena se boetse se etsa hore trisomy 16 e be sesosa se tloaelehileng sa chromosomal ea ho senyeha ha maikutlo, kaha boemo ha bo lumellane le bophelo.
Trisomy 16 Mosaicism
Ka linako tse ling ho ka 'na ha e-ba le li-chromosome tse tharo tse 16, empa eseng lisele tsohle tsa' mele (tse ling li na le likopi tse peli tse tloaelehileng). Sena se bitsoa mosaicism. Matšoao a mosai oa trisomy 16 a akarelletsa:
- Bothata bo bobe ba lesea nakong ea bokhachane
- Likoetliso tsa pelo tsa Congenital , tse kang tšenyo ea septal defect (batho ba 16 lekholong) kapa bokooa ba atrial septal (karolo ea 10 lekholong ea batho)
- Litšobotsi tse sa tloaelehang tsa sefahleho
- Matšoafo a sa sebetsanang le 'ona kapa mathata a ho phefumoloha
- Liketso tse mpe tsa musculoskeletal
- Ho bula ha methapo e tlaase haholo (hypospadias) ho karolo ea 7,6 lekholong ea bashanyana
Hape ho na le kotsi e eketsehileng ea ho tsoaloa pele ho masea a nang le mosai oa trisomy 16.
16 P Minus (16p-)
Lefats'eng lena, karolo ea karolo e khutšoanyane (p) ea chromosome 16 e haella. Lefu le amanang le 16p- ke lefu la Rubinstein-Taybi .
16 P Plus (16p +)
Ho pheta-pheta ha karolo e 'ngoe kapa e khutšoanyane (p) ea chromosome 16 ho ka baka:
- Ho hōla hampe ha lesea nakong ea bokhachane le ka lesea ka mor'a ho tsoaloa
- Lekhala le lenyenyane le chitja
- Boholo bo otla le lintši
- Sefahleho se otlolohileng
- Mohare o moholo ka ho fetisisa o nang le mohlahare o tlaase
- Litsebe tse fokolang ka tlaase tse nang le litlolo
- Thumb anomalies
- Mathata a kelello a tebileng.
16 Q Minus (16q-)
Lefung lena, karolo ea nako e telele (q) ea chromosome 16 e haella. Batho ba bang ba nang le 16q- ba ka ba le bothata bo matla ba kgolo le nts'etsopele, le bobe ba sefahleho, hlooho, litho tsa ka hare, le mesifa ea mesifa.
16 Q Plus (16q +)
Ho pheta-pheta ha karolo e 'ngoe e telele (q) ea chromosome 16 e ka hlahisa matšoao a latelang:
- Khōlo e mpe
- Bothata ba kelello
- Hlooho e sa tloaelehang
- Pona e khanyang e nang le nko ea makhetlo a khutšoanyane kapa a koahetsoeng le molomo o mosesaane o moholo
- Joint anomalies
- Genitourinary anomalies.
16p11.2 Tlosa Syndrome
Ena ke ho tlosoa ha karolo ea letsoho le lekhutšoanyane la chromosome ea liphatsa tsa lefutso tse ka bang 25, e amang e 'ngoe ea li-chromosome tse 16 selekeleng ka' ngoe. Batho ba tsoetsoeng ke lefu lena hangata ba liehe ntshetsopele, bokooa bo nang le kelello le bothata ba autism ea litlhoko. Leha ho le joalo, ba bang ha ba na matšoao. Ba ka fetisetsa boloetse bona ho bana ba bona, bao ba bang ba nang le liphello tse matla haholo.
16p11.2 tlhaloso
Ena ke phetolelo ea karolo e le ngoe ea 11.2 mme e ka 'na ea e-ba le matšoao a tšoanang le ho tlosoa. Leha ho le joalo, batho ba bangata ba nang le ho pheta-pheta ha ba na matšoao.
Joaloka ka lefu la ho tlosa, ba ka fetisetsa chromosome e sa tloaelehang ho bana ba bona ba ka bonang liphello tse bohloko haholo.
Mathata a mang
Ho na le mefuta e mengata ea litlhaloso kapa liphetoho tse ling tsa karolo ea chromosome 16. Lipatlisiso tse ling li lokela ho etsoa ka mathata ohle a chromosome 16 ho utloisisa hantle litlhaloso tsohle tsa tsona ho batho ba amehileng ke bona.
Lisebelisoa
> Brief (le Basic) Tlhaloso ea Chromosome 16 Mathata. Mathata a Chromosome 16 Motheo. http://www.trisomy16.org/about/what_are_doc16.html.
> Chromosome 16. Laebrari ea Sechaba ea US ea Meriana ea Maiketsetso ea Maiketsetso ea Lehae https://ghr.nlm.nih.gov/chromosome/16.