Iningi labantu abazalwa ngokuzalwa nalesi sifo se-chromosomal bane-trisomy ye-mosaic 9
I-Trisomy 9 yisimo esingavamile esingavamile futhi esibulalayo se-chromosomal esenzeka cishe cishe ngamaphesenti angu-2.5 okukhipha isisu-ukulahlekelwa kokukhulelwa okwenzeka ngaphambi kweviki lama-20 lokukhulelwa.
Njengoba kufana ne-trisomy 21 (eyaziwa nangokuthi i-Down syndrome), i-trisomy 9 ikhona uma kunamakhophi amathathu we-chromosome 9 ekhona amangqamuzana omntwana, ngokumelene namakhophi amabili.
Ngokungafani ne-trisomy 21, noma kunjalo, i-trisomy 9 ihamba phambili, ibangela ukubonakaliswa okukhulu kakhulu, futhi inesilinganiso esiphansi kakhulu sokusinda.
Yiziphi izinhlobo ze-Trisomy 9?
Kunezinhlobo ezintathu ze-trisomy 9:
- I-trisomy 9 egcwele: Wonke amangqamuzana emzimbeni womntwana ne- placenta anamakhophi amathathu we-chromosome 9.
- I-trisomy eyingxenye 9: Kukhona amakhophi amabili ephelele we-chromosome yesishiyagalolunye kanye nekhophi eyengeziwe engokwengxenye.
- I-trisomy kaMose 9: I-trisomy ikhona kwamanye amaseli omzimba ngenkathi amanye amaseli enesethi evamile yama-chromosomes.
I-trisomy egcwele 9 iseduze njalo ibulalayo, iningi lifa ku-trimester yokuqala. Nakuba iningi lezingane ezizalwa zizalwa ziphethe i-trisomy 9 yama-mosaic, abaningi bafa kusukela ebuntwaneni ngenxa yezinkinga zempilo ezibangelwa yi-disorder. Lokhu kuthiwa, kukhona abanye abasinda ngaphesheya konyaka wokuqala wokuphila.
I-trisomy 9 ehlukile ingase ingathinti isikhathi sokuphila komntanakho, kodwa abantwana abathintekayo bangase babe nezinkinga ezihlukahlukene zezempilo kanye nentuthuko.
Ziyini izimpawu noma izimpawu ze-Trisomy 9?
Izimpawu nezimpawu ezikhona ku-trisomy 9 ziyahlukahluka. Ukutholakala okuvamile kwi-ultrasound kuhlanganisa ukukhubazeka kwenhliziyo yentombazane kanye nobuchopho kanye nenkinga yokugulisa umgogodla.
Ezinye izibonakaliso nezimpawu ezingase zibe khona ezihlobene ne-trisomy 9 zivame ukufaka:
- ukubonakala kobukeka obunhlobonhlobo (ikhanda elincanyana, impumu ebanzi ngetipho ezinamaqabunga, umlomo womlomo ozwakalayo kanye / noma umlenze, umhlathi omncane, izindlebe ezisezingeni eliphansi, amehlo amancane kanye / noma amaqabunga ejwabu leso elihle phezulu
- izinkinga zombono
- ahlukanise amalunga
- izakhi zobulili ezingathuthuki
- Ukuhlolwa okungahlosiwe ezinganeni zesilisa
- izinso zezinso
- ukondla kanye nokuphefumula ubunzima ngemva kokuzalwa
- ukwehluleka ukuphumelela
- isiqu esifushane
- izinkinga zombono
- ukukhubazeka okungafani nokukhubazeka kwentuthuko
Yini eyenza umfazi abe nethuba lokuba nengane ne-trisomy 9?
Abacwaningi abazange babone noma yiziphi izici ezingozini ze-trisomy 9, ngaphandle kokuthi kuhlanganiswe neminyaka yobudala ekhulelwe, njenge-trisomy 21. Ngaphandle kwalokho, isimo sibonakala senzeke ngokungahleliwe. Okuhlukile kuphela uma umzali enesimo esaziwa ngokuthi i-translocation elinganiselayo ethinta i-chromosome 9, engayandisa ingozi yokuba nengane ene-trisomy eyingxenye 9. Noma kunjalo, i-trisomy 9 engavamile ayifani, uma kuqhathaniswa nezinye izinhlobo.
I-Trisomy 9 ihlolwe kanjani?
I-Trisomy 9 ingatholakala ukuthi ilandela ukukhulelwa kwesisu. Kungenzeka futhi ukuthi uthole ukuxilongwa ngesikhathi ukhulelwe yi-chorionic sampling sampling ( CVS ) noma i- amniocentesis . Ngezicubu eziphambanayo ezivela kuma-CVS noma amangqamuzana e-fetus avela ku-amniocentesis, odokotela bangahle bahlele i-karyotype, okuyisithombe se-chromosome yengane. Ngezinye izikhathi ukuxilongwa akukwenziwa kuze kube yilapho ingane izalwa, futhi i-karyotype iyalwelwa ukuqinisekiswa.
Izwi elivela ku-Verywell
Kuyesabeka futhi kudidekile ukuthi utshele ingane yakho ine-genetic disorder, kungakhathaliseki ukuthi isimo sinzima kangakanani. Uma uphazamisa ingane ene-trisomy 9, kufanele wazi ukuthi ukukhulelwa kwesisu akuyona iphutha lakho, kanti izinkinga ziphansi ukuthi ukukhulelwa kwakho okulandelayo kuzothinteka. Ngokudabukisayo, ukuphazamiseka kwe-trisomy kungenye yezinto ezenzeka ngezinye izikhathi.
Uma usuhlolo olukhulelwe futhi oluthatha isifo sokubeletha olutholakala ngaphambi kokuthola ingane luthola i-trisomy 9, kubalulekile ukukhuluma nomeluleki wezakhi zofuzo noma i-geneticist. Ayikho ikhambi le-trisomy 9, kanti ukwelashwa kuxhomeke ezimpawu nezimpawu zomntwana eziyingqayizivele.
> Imithombo:
> Miryounesi M, Dianatpour M, Shadmani Z, Ghafouri-Fard S. Umbiko wecala nge-trisomy 9 e-mosaicism. I-Iran J Med Sci . 2016 Meyi; 41 (3): 249-52.
> NIH. Isikhungo Sokwazisa Ngezifo Zamafuba. (2015). I-trisomy kaMose 9.
> Schwendenmann WD et al. Ukutholakala kwe-Sonic ku-trisomy 9. J Ultrasound Med . 2009 Jan; 28 (1): 39-42.
> Zen PR, Rosa RF, Rosa RC, Graziadio C, Paskulin GA. Umbiko omusha weziguli ezimbili ezine-mosaic trisomy 9 ezethula izici ezingavamile nokusinda isikhathi eside. I-Sao Paulo Med J. 2011 Dec; 129 (6): 428-32.