I-Trisomy 16 ne-Mosaic Trisomy 16 ekukhulelweni
Uma ufunde ukuthi ingane oye yaphulukisa yayine-trisomy 16, noma uma ufunda ngendima uma i-chromosome engavamile ekukhulelweni kwegazi, yini okudingeka uyikwazi?
Uma, esikhundleni salokho, ufunde ukuthi ingane yakho ingaba ne-trisomy mosai 16 ngemuva kwesampuli se-chorionic villus, i-amniocentesis, noma i-karyotype eyenziwe ngemva kokuzalwa, yini okudingeka uyikwazi? Kwenzekani ngokulandelayo futhi lokhu kusho ukuthini esikhathini eside?
Ama-Chromosomal Okungajwayelekile Emndenini Wokuthutha
Ukukhathazeka kwe-Chromosomal yimbangela evame kakhulu yokuhlukunyezwa kokuqala kwe-trimester , okulinganiselwe kwalezi zinkinga kubhekene namaphesenti angama-50 kuya kwangu-75 azo zonke izimo ezilahlekile. Ama-trisomi, futhi, awona okutholakala okuhlobene kakhulu kwe-chromosome ekuhlolweni kokuphuma kwesisu.
- Ukuqonda iGenesis, i-DNA, ne-Chromosomes
I-Trisomy 16 ekuthunjweni
Kuwo wonke ama-trisomi (okuxoxwa ngezansi), i-trisomy 16 ibonakala iyona evame kakhulu, eyenzeka cishe engamaphesenti ayisithupha okukhulelwa. futhi kubhekwe cishe amaphesenti angu-10 okuhlukumeza. Kunezinhlobo ezahlukene ze-trisomy 16; ngohlobo olulodwa olungavumelani ngokuphelele nokuphila ngenkathi omunye kungabangela intwana enempilo ngezinye izikhathi. Sizokhuluma ngalezi zinhlobo ezehlukene kodwa kuqala, kufanele sichaze ukuthi kusho ukuthini i-trisomy.
Iyini i-Trisomy futhi Yenzani? -
Ngokujwayelekile, abantu banama-chromosomes angu-46, aqoqwe ndawonye ngama-23 wezimbili.
Iqoqo elilodwa lama-chromosomes angu-23 livela kumama kanti enye isethwe kubaba. Ama-pair amaningi (44) ama-chromosomes abizwa ngokuthi "ama-autosomes" kanti amanye amabili "angama-chromosomes ocansini." Abesifazane ngokuvamile bane-karyotype yama-46 XX nabesilisa, 46 i-XY.
Lapho amangqamuzana ehlukanisa ukwakha amaqanda nesidoda ngenqubo ebizwa ngokuthi i-meiosis, ikhophi eyodwa ye-chromosome ngayinye iya kwelinye lamaqanda amabili noma i-sperm amabili.
Ngezinye izikhathi iphutha livela, futhi ama-chromosomes amabili aya eqanda elilodwa noma ku-sperm futhi akekho komunye.
Uma isidoda neqanda zihlanganisa (ngesikhathi sokukhulelwa) i-zygote izophela nge-chromosome eyengeziwe (i-trisomy) noma i-chromosome elahlekile (i-monosomy).
I-trisomy ingenzeka ngemva kokukhulelwa. Ngaphambi kokuhlukaniswa, amangqamuzana kabili ama-chromosomes awo ngakho-ke anama-92. Uma iseli lihlukanisa, indodakazi ngayinye iyoba nama-chromosomes angu-46. Uma kwenzeka iphutha, iseli elilodwa lingagcina ngamama-chromosomes angu-47 kanti elinye linama-45.
Izinhlobo ze-Trisomy 16
Kunezinhlobo ezintathu ze-trisomy: ephelele, eyingxenye, nangomusa.
I-trisomy ephelele 16 - I-trisomy egcwele 16 isho ukuthi wonke amaseli emzimbeni womntwana athintekile. I-trisomy egcwele 16 ayihambisani nokuphila futhi cishe zonke izingane ezinesimo esiphuthelwe yi-trimester yokuqala.
I-trisomy kaMose 16 - Kungenzeka futhi ukuthi ube ne-trisomy mosai engu-16, okusho ukuthi amanye amangqamuzana omzimba ayathinteka ngenkathi amanye amaseli ejwayelekile. I-trisomy ka-Mosai engu-16 ingabangela ukuthi i-trisomy ikwazi ukuzilungisa ngesikhathi sokuhlukaniswa kwamaseli ekuqaleni kokukhula komntwana, ishiya amanye amaseli aphethwe kodwa hhayi abanye. UMoseicism uvame ukuboniswa njengephesenti.
I-trisomy eyingxenye 16 - Kungenzeka futhi, ezimweni ezingavamile, ukuba nokukhulelwa lapho amangqamuzana ahamba khona aphethe i-trisomy egcwele 16 noma i-trisomy ephathekayo 16 noma ngabe ingane ijwayelekile ngokwezifiso.
Lokhu kwaziwa ngokuthi i-trisomy eyingxenye 16.
Ukuqonda ama-Karyotypes nge-Trisomy 16
I-karyotype evamile ibhalwe ngo-46 XX noma i-46 XY, ene-trisomy engu-47 XX noma i-47 XY.
I-Trisomy 16, ibhalwe njenge-47 XX +16 yentombazane, noma i-47 XY +16 yomfana (ene-+16 ebonisa ukuthi i-trisomy ihilela i-chromosome yesi-16.)
I-trisomy kaMose ingabhalwa njengephesenti, isibonelo ngomfana ingabhalwa 47 XY +21/46 XY ngephesenti enikezwe njengamanani amangqamuzana anama-47 XY +16 nenombolo equkethe i-XY.
Ukuxilongwa kwe-Trisomy 16
Ukuxilongwa kwe-trisomy 16 kungenziwa emva kokukhulelwa kwesisu, noma ngokuphambene, kungatholakala ngesikhathi sokukhulelwa ngenxa yokuhlolwa kokubeletha.
I-trisomy egcwele 16 ingatholakala ukuthi iyimbangela yokukhulelwa kwesisu uma abazali beqoqa izicubu nokuhlolwa kwezinto ezingavamile zokukhishwa kwesisu kwenziwa.
I-Trisomy 16 noma i-trisomy ye-mosaic 16 ingatholakala futhi ngesikhathi sokukhulelwa ngokusebenzisa isampuli ye-chorionic villus (i- CVS ) noma i- amniocentesis .
I-Trisomy 16 Ukuhlolisisa Ngemuva Kokuqothula Kukusho Kwenu
I-trisomy ephelele 16 cishe ihlala njalo iholela ekukhulelweni kokuqala kwe-trimester. Uma utshelwe ukuthi i-trisomy 16 yimbangela yokukhulelwa kwesisu sakho, kufanele wazi ukuthi ukukhulelwa komzimba akuyona iphutha lakho futhi amathuba okukhulelwa kwesisu esikhathini esilandelayo aphansi. Kuze kube ngamaphesenti angama-85 abesifazane abaphethe ukukhulelwa kwesisu okuqala kokuqala, baqala ukukhulelwa okujwayelekile esikhathini esizayo lapho bekhulelwa.
I-Trisomy 16 Ukuxilongwa Okwenziwe Ngesikhathi CVS noma Amniocentesis
Uma okwamanje ukhulelwe futhi uthole imiphumela ye-CVS noma i-amniocentesis ebonisa amangqamuzana aphethwe yi-trisomy 16, kuvamile ukuba wesabe noma adideke. Kodwa kufanele wazi ukuthi akunakwenzeka ukuthi umntwana une-trisomy ephelele 16 uma ukukhulelwa kwakho kuqhubekile kudlulile ekupheleni kwe-trimester-umntwana angase abe ne-trisomy mosai 16 noma i-trisomy ingavinjelwa epulazini.
I-Mosaic Trisomy 16 Ngesikhathi sokukhulelwa
Ukuthatha umntwana nge-trisomy ka-mosai 16 kuthwala ingozi yokucindezeleka, futhi kubalulekile ukubona isazi sezinzwa esibhekene nokukhulelwa okukhulu ukusiza ukuqapha ukukhulelwa kwakho. Ukukhulelwa nge-trisomy 16 kunomthelela ophakeme kunezinga:
- Ukunciphisa ukukhula kwe-intrauterine
- Ukukhulelwa kubangelwa ukucindezeleka komzimba (preeclampsia noma toxemia)
- Ukulethwa kwesigaba se-C
- Ukwamukelwa kwe-neonatal yokunakekelwa okunamandla ngemuva kokubeletha
Ama-Anomalies angama-Congenital ezinsana ezine-Mosaic Trisomy 16 noma i-Trisomy ye-Placental 16
Akukho ucwaningo oluningi emiphumeleni ye-mosaic trisomy 16 noma i-trisomy 16 ye-placenta (i-trisomy eyingxenye 16), kodwa ucwaningo olutholakala luveza ukuthi abantwana abathintekayo ngokuvamile abahlupheki kakhulu.
Phakathi kwezinsana ezalwa nge-trisomy 16, imiphumela yezempilo ingahlukahluka ngokuya ngesilinganiso sobuciko. Ngezinye izikhathi izinsana zizalwa zingenabufakazi bokuthi yiziphi izinto ezingavamile kanti abanye bangaba nesethi yezinkinga zempilo. Amaphesenti angaba ngu-60 alaba bantwana bazoba nobufakazi obuncane bokungaboni kahle kokuzalwa okungabandakanya:
- Ukukhubazeka kwenhliziyo (isifo senhliziyo esiswini) - I-Ventricular septal defect ikhona cishe ezingamaphesenti angu-17 alezi zingane kanye ne-atrial septal defect (ASD) ezungeze amaphesenti angu-10.
- I-Hypospadias - i-Hypospadias yisimo lapho ukuvulwa kwe-urethra wesilisa kungekho ekugcineni kwepenisi kodwa kunalokho endaweni ethile eduze kwe-shaft.
- Ukukhubazeka ebusweni njengentamo emfushane, ikhanda eliphakeme, kanye / noma impumu ekhonjiwe.
- Ukukhubazeka okuphefumula njengamaphaphu amancane (hypoplastic).
- Ukungajwayelekile kwe-musculoskeletal njenge-scoliosis.
- Ukukhubazeka kwengqondo noma ukulibaziseka kwentuthuko, kodwa lokhu kubonakala kuwukuphela.
Imiphumela Yesikhathi Eside Ezinganeni Zomzimba Ka-Mosaic Trisomy 16
Naphezu kokucindezeleka kokukhulelwa kanye nesifo se-anomalies engabantwana abangama-20%, u-2017 wabonisa ulwazi olukhuthazayo mayelana nempilo yesikhathi eside yezingane ezine-mosaic trisomy 16. Ezingane esikoleni izingane ezine-trisomy 16, amaphesenti angu-80 bakwazi ukuya emakilasini ajwayelekile . Ucwaningo olubheke empilweni engokwenyama, impilo yengqondo, kanye nekhwalithi yokuphila kwakhuthaza kakhulu, kubonisa ukuthi iningi lalaba bantwana lalinganisa phakathi kuka-80 no-90 ngamanothi angu-100 ezingeni eliphezulu lokuphila.
Ukuphathwa Kwezikhumbuluko Nge-Mosaic Trisomy 16
Njengoba kuphawuliwe ngenhla, kunezinkinga eziningana zokukhulelwa ezivame kakhulu nengane ene-trisomy 16. Ukubandakanya i-perinatologist noma isazi sezinambuzane esibhekene nokukhulelwa okuphezulu kubalulekile.
Ukufunda ngesimo kungakusiza ukulungiselela, ikakhulukazi ukufunda ukuthi iningi lezingane ezizalwa nge-mosaic trisomy 16 liba nempilo emihle ngokomzimba nangokwengqondo njengoba zikhula.
Ukubona ochwepheshe bezempilo yengqondo ojwayele ukukhubazeka kwe-chromosomal kungasiza kakhulu, kokubili ukuqinisa iqiniso lokuthi akukho lutho olwenzile olubangela isimo, nokukusiza ukuba ulungiselele ukuba nengane okungenzeka ibe nezimo ezithile ezingalungile.
Ukufunda Nge-Trisomy 16 nokululekwa kweGenesis Emva kokushada
Kungakhathaliseki ukuthi yiziphi izifundo noma izibikezelo, kuvamile ukucasuka futhi ube nemibuzo uma ukuhlolwa kubonisa ukuthi kungenzeka kube nezinkinga nengane yakho. Uma ufunde ukuthi umntwana oye waphuthumayo wayene-trisomy 16, ukululekwa ngokwezakhi kungasiza kakhulu. Njengoba nje nokuphatha izingane nge-mosaic trisomy 16 kuyinto engahleliwe, kokuba nokukhulelwa kwesisu okuhlobene ne-trisomy 16 emntwaneni akuyona into oyibangele.
Amanye ama-Trisomi abantu
Kunezinhlobo eziningi ze-trisomies zomuntu, ezinye ezingahambisani nokuphila nabanye okuyizinto. Mhlawumbe eyaziwa kakhulu yi-Down syndrome (trisomy 21). Njengomuthi we-trisomy 16, iningi lalezi zingozi ziyizingozi ezingahleliwe futhi akunakwenzeka ukuthi zizoqhubeka nokukhulelwa esikhathini esizayo.
Ngezansi ku-Trisomy 16, Ukususwa Kwangaphandle, nokuzalwa
Njengoba i-trisomy 16 egcwele, ukukhulelwa kwesisu kuvele kwenzeka phakathi nenyanga yokuqala, futhi isimo sibonakala singavumelani nokuphila. Ngenkathi ukufunda nge-diagnosis kuyinto ebuhlungu, kungase kukhuthaze abanye abazali ukuba baqaphele ukuthi akukho lutho abakwenzile ukudala lesi sifo, futhi ithuba lokuba ne-Trisomy 16 kwenye ukukhulelwa akuvamile.
Ngomsindo we-trisomy 16, izindaba zibonakala zikhuthaza ngaphezu kokucabanga esikhathini esidlule. Kukhona ngokusobala ukuthi kunezinkinga zokukhulelwa okungaphezulu ne-fetus enesifo se-trisomy 16, futhi kukhona nesimo esiphezulu se-anomalies engavamile, kodwa impilo yesikhathi eside yengqondo, yengqondo nengqondo yalaba bantwana ivame kakhulu.
Imithombo
- Coman, D., Gardner, R., Pertile, M., noP. Kannu. I-Trisomy 16 Mosaicism ku-Chorionic Villus Sampling no-Amniocentesis ngePhysical Physical and Intellectual Outcome. I-Fetal Diagnosis neTherapy . 2010. 28 (2): 117-8.
- Chareonsirisuthigul, T., Worawishawong, S., Parinayok, R., Promosonthi, P. no B. Rerkamnuaychoke. Ukunciphisa ukukhula kwe-intrauterine ne-Trisomy 16 kaMoseicism. Imibiko yendaba ku-Genetics . 2014. 2014: 739513.
- UKliegman, uRobert M., uBonita Stanton, uSt Geme III uJoseph W., uNine Felice. Schor, uRichard E. Behrman, noWaldo E. Nelson. UNelson Bookbook of Pediatrics. I-20th Edition. Philadelphia, PA: Elsevier, 2015. Phrinta.
- Sparks, T., Thao, K., noMn. Norton. UMoseic Trisomy 16: Yimiphi imiphumela ye-Obstetric and Long-Term Childhood? . I-Genetic in Medicine . 2017 Apr 6. (Epub ngaphambi kokuphrinta).
- Spencer, K., Pertile, M., Bonacquisto, L., Mills, E., Turner, S., uDonalson, K., noJonsson. Ukutholwa kokuqala kweTriomyter ye-Trisomy 16 Ukusebenzisa ukuhlolwa kwe-Biochemical ne-Ultrasound ehlangene. Ukuxilongwa kwangaphambi kokubeletha . 2014. 34 (3): 291-5.
- Ilabhulali Kazwelonke Yezokwelapha yase-US. I-Genetics Home Reference. I-Chromosome 16. Kubuyekezwe 0404/17.