I-Chromosome 16 iqukethe amawaka ezinjengegesi. Inendima yalezi zintlobo kukukhokela ukuveliswa kweprotheni, echaphazela imisebenzi eyahlukeneyo emzimbeni. Ngelishwa, iimeko ezininzi zezofuzo zihambelana neengxaki zejeni kwi-chromosome 16. Utshintsho kwisakhiwo okanye kwinani leekopi ze-chromosome kunokubangela iingxaki ngempilo nophuhliso.
Isiseko se-Chromosomes
I-Chromosomes yizona zakhiwo ezibambe iizalo zakho zegesi, ezinika imiyalelo ekhokela ukuphuhliswa komzimba kunye nokusebenza. Kukho ama-chromosomes angama-46, avela kuma-paire angama-23, kwaye aqukethe amawaka ezinjengegesi. Kwinqanaba ngalinye, omnye uzuze kumama kunye noyise. Nangona wonke umntu kufuneka abe nama-chromosomes angama-46 kuyo yonke iseli yomzimba, i-chromosomes ingabikho okanye iphindwe kabini, okubangelwa ukulahleka okanye izakhi zofuzo ezongezelelweyo. Ezi zinyango zingabangela iingxaki kwimpilo nophuhliso. Iimeko ezilandelayo ze-chromosomal zidibene ne-chromosome 16.
Trisomy 16
Kwi-trisomy 16, endaweni yesibini eqhelekileyo, kukho iikopi ezintathu ze-chromosome 16. I-Trisomy 16 iqikelelwa ukuba yenzeke ngaphezu kwe-1 ekhulwini yokukhulelwa, okwenza i-trisomy eqhelekileyo kubantu. Ngelishwa, le nto yenza ukuba i-trisomy 16 ibangele i-chromosomal imbangela yokulahleka kwamathambo, njengoko imeko ayihambisani nobomi.
Trisomy 16 Mosaicism
Ngamanye amaxesha kukho iikopi ezintathu ze-chromosome 16, kodwa kungekhona kuzo zonke iiseli zomzimba (ezinye zikopi eziqhelekileyo ezimbini). Oku kubizwa ngokuba yi-mosaicism. Iimpawu ze-trisomy 16 zobugcisa ziquka:
- Ukukhula kakubi komntwana ngexesha lokukhulelwa
- Iziphene zentliziyo ebanjwe ngumzimba , ezifana nesiphene se-septal defect (16 pesenti yabantu) okanye i-septal defect defect (10% yabantu)
- Ubuso obungavamile
- Iimpumphu ezingapheliyo okanye iingxaki zokuphefumula
- Izikhalazo zeMisculoskeletal
- Ukuvula urethral kakhulu (hypospadias) kuma-7.6 ekhulwini kwamakhwenkwe
Kukho umngcipheko okhulayo wokuzalwa kwangaphambi kweentsana ezine-trisomy 16.
16 P Minus (16p-)
Kule ngxaki, inxalenye yengalo emfutshane (p) ye-chromosome 16 ayikho. I-disorder ehambelana no-16p- yiRubinstein -Taybi syndrome .
16 P Plus (16p +)
Ukuphindaphinda kweminye okanye yonke ingalo emfutshane (p) ye-chromosome 16 ingabangela:
- Ukukhula kakubi komntwana ngexesha lokukhulelwa kunye nosana emva kokuzalwa
- Ingqungquthela encinci
- Imivimbo emininzi kunye neelishi
- Ubuso obujikelezileyo
- Umhlathi ophezulu ophezulu kunye nomhlathi omncinci omncinci
- Iindlebe ezisezantsi eziphantsi kweendlebe
- Iimpazamo zomzimba
- Ukuphazamiseka kwengqondo.
16 Q Minus (16q-)
Kule ngxaki, inxalenye yexesha elinde (q) yengalo ye-chromosome 16 ayikho. Abanye abantu abanama-16q- banokuba nobunzima obukhulu bokukhula kunye nokuphuhliswa kokuphuhliswa, kunye neendlela ezingabonakaliyo ngobuso, intloko, izitho zangaphakathi kunye ne-musculoskeletal system.
16 Q Plus (16q +)
Ukuphindaphinda kwamanye okanye yonke ingalo ende (q) yengalo ye-chromosome 16 inokuvelisa iimpawu ezilandelayo:
- Ukukhula okubi
- Ukukhubazeka kwengqondo
- Intloko ephezulu
- Inwele ephakamileyo eneempumlo ezimfutshane okanye eziphambili kunye nomlomo ophezulu
- Izikhalazo ezihlangeneyo
- Izikhalazo zeGenitourinary.
16p11.2 Ukususa i-Syndrome
Oku kususwa kwecandelo lesigxina se-chromosome malunga nama-25 ejeni, echaphazela enye ye-chromosome 16 kwiseli nganye. Abantu abazalelwa kwesi sifo bavame ukulibaziseka uphuhliso, ukukhubazeka kwengqondo kunye ne-autism disorder disorder. Nangona kunjalo, abanye abanakho iimpawu. Baya kudlula le ngxaki kubantwana babo, obani abanemiphumo emibi kakhulu.
16p11.2 Ukuphindaphinda
Oku kukuphindaphinda kwe-11.2 kunye kwaye kunokufumana iimpawu ezifanayo njengokususwa. Nangona kunjalo, abantu abaninzi abanokuphindaphinda abanalo iimpawu.
Njengoko kunye nesifo sokususa, banokudlula i-chromosome engavumelekanga kubantwana babo abangabonisa imiphumo emibi kakhulu.
Ezinye izifo
Kukho nezinye iindidi zokudibanisa okanye iziphene zeengxenye ze-chromosome 16. Uphando olungakumbi lufanele lwenziwa kuzo zonke iziphazamiso ze-chromosome 16 ukuze ziqonde kakuhle iimpembelelo zabo ezipheleleyo kubantu abachaphazelekayo.
Imithombo
> Inkcazo (kunye neSeko) Ukuqwalaselwa kweengxaki ze-Chromosome 16. Iingxaki zeChromosome 16 Foundation. http://www.trisomy16.org/about/what_are_doc16.html.
> I-Chromosome 16. I-Library kaZwelonke ka-US yeMicrosoft Genetic Home Reference. https://ghr.nlm.nih.gov/chromosome/16.