Chromosome 16 ine zviuru zvemajeni. Basa remajini aya ndiko kutungamirira mapuroteni ekugadzira, izvo zvinokonzera zvakasiyana-siyana zvemuviri. Zvinosuruvarisa, maitiro mazhinji emararamiro akabatana nezvinetso nemajeni echromosome 16. Kuchinja mune chimiro kana nhamba yemakopiomome kunogona kukonzera matambudziko nehutano nekuvandudza.
Basics of Chromosomes
Chromosomes ndiyo zvivako zvinobata majini ako, anopa mirayiridzo inotungamirira kukura kwemuviri nekushanda. Pane ma chromosomes makumi mana nematanhatu, anowanikwa mu 23 mapaundi, uye ane zviuru zvemajini. Mumhuri imwe neimwe, imwe inotora nhaka kubva kuna amai uye imwe kubva kuna baba. Kunyange zvazvo munhu wose aine ma chromosomes 46 mumasero ose emuviri, ma-chromosomes angave asina kukwana kana kuverengwa, zvichiita kuti urege kuwanikwa kana kuti mamwe majini. Izvi zvinogona kukonzera matambudziko muhutano uye kubudirira. Izvi zvinotevera chromosomal conditions zvinosanganiswa nekromosome 16.
Trisomy 16
Mumatrisomy 16, panzvimbo pezvikamu zviviri zvakajairika, pane makopi matatu echromosome 16. Trisomy 16 inofungidzirwa kuti inowedzera kupfuura 1 muzana yekubata pamuviri, zvichiita kuti ive trisomi inowanzoonekwa nevanhu. Zvinosuruvarisa, izvi zvinoitawo kuti trisomy 16 inowanzovhiringidza chromosomal chikonzero chekutapukisa, sezvo chirwere ichi chisingawirirani noupenyu.
Trisomy 16 Mosaicism
Dzimwe nguva kunogona kuve nemakiti matatu echromosome 16, asi kwete mumasero ose emuviri (mamwe ane mavara maviri akaenzana). Izvi zvinonzi mosaicism. Zviratidzo zveTrisomy 16 mosaicism zvinosanganisira:
- Kukura kukura kwemucheche panguva yekuzvitakura
- Congenital heart defects , zvakadai se ventricular septal defect (16 muzana yevanhu) kana kushaya atrial septal (10 muzana yevanhu)
- Zvisingaoneki zviso zvakatarisa
- Mapapu asina kudzivirirwa kana zvinetso zvekufema
- Musculoskeletal anomalies
- Urethral kuvhura kwazvo (hypospadias) muna 7.6 muzana yevakomana
Iko kunewo njodzi yakawanda yekuberekwa kusati kwasvika kumucheche ane trisomy 16 mosaicism.
16 P Minus (16p-)
Muchirwere ichi, chikamu chepfupi (p) ruoko rwekromosome 16 hachina. Chirwere chinosangana ne16p- Rubinstein-Taybi syndrome .
16 P Plus (16p +)
Kudzokorora kweimwe kana kuti yese pfupi (p) ruoko rwekromosome 16 inogona kukonzera:
- Kukura kwakanyanya kwema fetus panguva yekudzivirira uye kwecheche mushure mekuberekwa
- Tsanga shoma shoma
- Mahombekiti anotinhira nemashizha
- Pakatarisana nechiso chepamusoro
- Mutsara wepamusoro wepamusoro ane tambo duku shoma
- Nzeve dzakadzika pasi dzakasvibiswa nemarara
- Thumb anomalies
- Kuora mwoyo kwakanyanya.
16 Q Minus (16q-)
Mune chirwere ichi, chikamu chenguva refu (q) ruoko rwechiromosome 16 harina kukwana. Vamwe vanhu vane 16q- vanogona kukura zvakanyanya nekusawirirana kwekukura, uye kusvibisa kwechiso, musoro, nhengo dzomukati, uye musculoskeletal system.
16 Q Plus (16q +)
Kudzokorora kwevamwe kana kuti yese yehurefu (q) ruoko rwekromosome 16 inogona kuita zviratidzo zvinotevera:
- Kukura kukura
- Kushata kwepfungwa
- Asymmetrical head
- Musoro wepamusoro ane pfupi yakakurumbira kana yakagadzika mumhino uye yakaonda muromo
- Joint anomalies
- Genitourinary anomalies.
16p11.2 Kubvisa Syndrome
Uku ndiko kubviswa kwechikamu chemukati mutsva wekromosome yemagenzura anenge makumi maviri nemashanu, zvichikanganisa chimwe chema chromosome 16 mune imwe sero. Vanhu vakaberekerwa nehutano ichi kazhinji vanonoka kukura, kuremara kwepfungwa, uye autism spectrum disorder. Zvisinei, vamwe havana zviratidzo. Vanogona kudarika chirwere ichi kuvana vavo, avo vanove nezvimwe zvinokonzera zvakanyanya.
16p11.2 Kudzokorora
Uku ndiko kudzokorora kwechikamu chimwe chete chezvikamu zve11.2 uye zvinogona kuva nezviratidzo zvakafanana sekubviswa. Zvisinei, vamwe vanhu vane kudzokorora havana zviratidzo.
Sezvakaita nere deletion syndrome, vanogona kudarika chromosome isina kukanganisa kuvana vavo vanogona kuratidza zvakanyanya kuipa.
Zvimwe zvinetso
Kune mamwe akawanda akawanda ekubatanidzwa kwezvinyorwa kana zvipembenene zvezvikamu zvekromosome 16. Zvimwe tsvakurudzo dzinoda kuitwa pamatambudziko ose e-chromosome 16 kuti inzwisise zvakakwana zvido zvavo zvakazara kune vanhu vanovhiringidzwa navo.
Sources
> Nhepfenyuro (uye Nheyo) Nyaya yeChromosome 16 Matambudziko. Kushungurudzika kweChromosome 16 Foundation. http://www.trisomy16.org/about/what_are_doc16.html.
> Chromosome 16. US National Library of Medicine Genetics Home Reference. https://ghr.nlm.nih.gov/chromosome/16.