I-Chromosome 16 iqukethe izinkulungwane zezakhi zofuzo. Indima yalezi zakhi zofuzo iwukuqondisa ukukhiqiza kwamaphrotheni, okuthinta imisebenzi ehlukahlukene emzimbeni. Ngeshwa, izimo eziningi zezakhi zofuzo zihlobene nezinkinga ezinezakhi zofuzo kwi-chromosome 16. Izinguquko esakhiweni noma kwinani lamakhophi we-chromosome zingabangela izinkinga ngempilo nokuthuthukiswa.
Izinsisekelo zama-Chromosomes
I-Chromosomes yizinhlaka ezibambe izakhi zakho zofuzo, ezinikezela imiyalelo eqondisa ukuthuthukiswa komzimba nokusebenza. Kukhona ama-chromosomes angu-46, avela kuma-pair amabili, futhi aqukethe izinkulungwane zegciwane. Ngaphakathi kwendima ngayinye, eyodwa izuzwe ngefa lomama nenye evela kubaba. Ngenkathi wonke umuntu kufanele abe nama-chromosomes angu-46 kuwo wonke amangqamuzana omzimba, ama-chromosomes angase alahleke noma aphishwe, okwenza kube khona izakhi zofuzo ezingekho noma ezengeziwe. Lezi zifo zingabangela izinkinga empilweni nasekuthuthukisweni. Izimo ezilandelayo ze-chromosomal zihlotshaniswa ne-chromosome 16.
I-Trisomy 16
Ku-trisomy 16, esikhundleni se-pair ejwayelekile, kunezikhombisi ezintathu ze-chromosome 16. I-Trisomy 16 kulinganiselwa ukuthi yenzeke ngaphezu kwamaphesenti angu-1 okukhulelwa, okwenza kube yi-trisomy ejwayelekile kubantu. Ngeshwa, lokhu kwenza futhi i-trisomy 16 yimbangela ejwayelekile kakhulu ye-chromosomal yokuhlukumeza, ngoba isimo asihambisani nokuphila.
Trisomy 16 Mosaicism
Ngezinye izikhathi kungase kube namakhophi amathathu we-chromosome 16, kodwa hhayi kuwo wonke amaseli omzimba (amanye anamakhophi amabili avamile). Lokhu kubizwa ngokuthi i-mosaicism. Izimpawu zobuciko be-trisomy 16 zihlanganisa:
- Ukukhula okuncane kwe-fetus ngesikhathi sokukhulelwa
- Ukukhubazeka kwenhliziyo , njenge-septric defect (amaphesenti angu-16 abantu) noma i- atrial septal defect (amaphesenti ayishumi abantu)
- Izici ezingavamile zobuso
- Amaphaphu angathuthuki noma izinkinga zokuphefumula
- Iziphuphutheki ze-musculoskeletal
- Ukuvula urethral kakhulu (hypospadias) ngamaphesenti angu-7.6 abafana
Kukhona nengozi eyengeziwe yokuzalwa ngaphambi kwezinsana nge-trisomy 16 mosaicism.
16 P Minus (16p-)
Kulesi sifo, ingxenye yengalo emfushane (p) ye-chromosome 16 ayikho. Isifo esihambisana no-16p- yiRubinstein -Taybi syndrome .
16 P Plus (16p +)
Ukuphindaphinda kweminye noma yonke ingalo emfushane (p) ye-chromosome 16 ingabangela:
- Ukukhula okuncane kwe-fetus ngesikhathi sokukhulelwa kanye nosana ngemuva kokuzalwa
- Ikhanda elizungezile elincane
- Iziphambano ezinkulu kanye namashiya
- Ubuso obunzima bomhlaba
- Umhlathi omncane ophezulu onomhlathi omncane ophansi
- Izindlebe ezisezingeni eliphansi ezinama-deformities
- Izinga lokuhlukumezeka
- Ukukhubazeka okukhulu kwengqondo.
I-Q Q Minus (16q-)
Kulesi sifo, ingxenye yengalo ende (q) ye-chromosome 16 ayikho. Abanye abantu abane-16q- bangase babe nokukhula okukhulu nokuthuthuka kokuthuthukiswa, nokukhubazeka kobuso, ikhanda, izitho zangaphakathi kanye nesistimu ye-musculoskeletal.
16 Q Plus (16q +)
Ukuphindaphinda kokunye noma yonke ingalo ende (q) ye-chromosome 16 ingaveza izimpawu ezilandelayo:
- Ukukhula okubi
- Ukukhubazeka kwengqondo
- Inhloko engenamathemikhali
- Isikhonkwane esiphakeme esinemikhono emfushane evelele noma eminyene nephule elincane
- Ama-anomalies ahlangene
- Ama-anomalies we-Genitourinary.
16p11.2 Ukususa i-Syndrome
Lokhu kususwa kwengxenye yesandla esifushane se-chromosome yama-geni angaba ngu-25, okuthinta enye ye-chromosome 16 esitokisini ngasinye. Abantu abazalwa ngaleli syndrome bavame ukubambezela ukuthuthukiswa, ukukhubazeka kwengqondo, kanye ne-autism spectrum disorder. Noma kunjalo, abanye abanakho izimpawu. Bangadlulisa le disorder kubantwana babo, abaningi abanemiphumela emibi kakhulu.
16p11.2 Ukuphindaphinda
Lokhu ukuphindaphinda kwesigaba 11.2 esifanayo futhi kungaba nezimpawu ezifanayo njengokususwa. Noma kunjalo, abantu abaningi abanokuphindaphinda abanalo izimpawu.
Njenge-deletion syndrome, bangadlulisa i-chromosome engavamile ezinganeni zabo ezingabonisa imiphumela embi kakhulu.
Ezinye izinkinga
Kunezinye eziningi eziningi zokuhlanganiswa kokukhipha noma ukuphinda kwezingxenye ze-chromosome 16. Ucwaningo olwengeziwe luzodingeka lwenziwe kuzo zonke iziphazamiso ze-chromosome 16 ukuze ziqonde kangcono impendulo yazo egcwele kubantu abathintekayo kubo.
Imithombo
> Okufushane (futhi Okuyisisekelo) Sibutsetelo se-Chromosome 16 Izinkinga. Ukuphazamiseka kwe-Chromosome 16 Isisekelo. http://www.trisomy16.org/about/what_are_doc16.html.
> I-Chromosome 16. I-US National Library of Medicine Genetics Home Reference. https://ghr.nlm.nih.gov/chromosome/16.