Uninzi lwabantwana abazalwa ngokuzalwa ne-chromosomal disorder bane-mosaic trisomy 9
I-Trisomy 9 yinto engaqhelekanga kwaye isifo esingaqhelekanga esichengileyo esenzekayo malunga nama-2.5 ekhulwini okukhupha isisu-ukulahleka kokukhulelwa okwenzeka ngaphambi kweveki ye-20 yokukhulelwa.
Efana ne-trisomy 21 (eyaziwa ngokuba yi-Down syndrome), i-trisomy 9 ivela xa kukho iikopi ezintathu ze-chromosome 9 ezikhoyo kwiiseli zomntwana, ngokuchasene neikopi ezimbini.
Ngokungafani ne-trisomy 21, nangona kunjalo, i-trisomy 9 ihamba phambili, ikhokelela kwimbonakalo enamandla kakhulu, kwaye inomlinganiselo ophantsi wokusinda.
Ziziphi iintlobo zeTrisomy 9?
Kukho iintlobo ezintathu ze-trisomy 9:
- I-trisomy epheleleyo 9: Zonke iiseli kumzimba womntwana kunye ne- placenta zinekopi ezintathu ze-chromosome 9.
- I-trisomy ekhethekileyo 9: Kukho ikopi ezimbini ezipheleleyo ze-chromosome yesithoba kunye nekopi eyongezelelweyo.
- I-Mosaic trisomy 9: I-trisomy ikhona kwezinye iiseli zomzimba ngelixa ezinye iiseli zinesethi eqhelekileyo yama-chromosomes.
I-trisomy epheleleyo 9 ihlala ibulalayo, ininzi inokufa kwi-trimester yokuqala. Ngelixa uninzi lwabazali abazalwa ngokuzalwa banomzimba we-trisomy 9, abaninzi bafa besana ngenxa yeengxaki zempilo ezibangelwa yi-disorder. Oko kuthethwa, kukho abanye abasinda ngaphaya komnyaka wokuqala wokuphila.
I-trisomy ekhethekileyo 9 ayinakuchaphazela ixesha lokuphila komntwana, kodwa iintsana ezichaphazelekayo zinokuluhlu lweemfuno eziqhelekileyo zempilo kunye nophuhliso.
Ziziphi iimpawu okanye iimpawu zeTrisomy 9?
Imiqondiso kunye neempawu ezikhoyo kwi-trisomy 9 ziyahluka. Iziphumo eziqhelekileyo kwi-ultrasound ziquka ukukhubazeka kwentliziyo kunye neengqondo kunye nomngcipheko weentambo.
Ezinye iimpawu kunye neempawu ezinxulumene ne-trisomy 9 ziquka rhoqo:
- Ubume obunjani obunjani (intloko encinci, impumlo ebanzi kunye nentonga ye-bulbous, umlomo ococekileyo kunye / okanye ulwanga, umhlathi omncinci, iindlebe eziphantsi, amehlo amancinci kunye / okanye iinkophe ezinqabileyo ezinyuka phezulu
- iingxaki zombono
- zidibanisa
- ezingaphantsi kophuhliso
- iimvavanyo ezingabonakaliyo kwiintsana zamantombazana
- izintso zeengtso
- Ukutya kunye nobunzima bokuphefumla emva kokuzalwa
- ukungaphumeleli
- lifutshane
- iingxaki zombono
- ukukhubazeka kwengqondo kunye nokulibaziseka kokuphuhliswa
Yintoni eyenza umfazi abe nethuba lokuba nosana ne-Trisomy 9?
Abaphandi abazange baqaphele nayiphi na ingozi yobomi be-trisomy 9, ngaphandle kokuba kukho umnxibelelwano kunye nobudala bomntwana obudala, njenge-trisomy 21. Ngaphandle koko, imeko ibonakala ivele ngeziza. Okukuphela kwimeko yokuba ngaba umzali unemeko eyaziwa njenge-translocation echanekileyo echaphazela i-chromosome 9, enokunyusa umngcipheko wokuba nosana olune-trisomy ekhethekileyo. 9 Nangona kunjalo, i-trisomy ye-9 ayiqhathanisi, ingafaniswa nezinye iindidi.
I-Trisomy 9 ichongwa njani?
I-Trisomy 9 inokufunyaniswa ukuba ilandele ikhefu. Kwakhona kunokwenzeka ukufumana ukuxilongwa ngexesha lokukhulelwa nge-chorionic sampling ( CVS ) okanye i- amniocentesis . Ngamaqhekeza e-placental avela kwi-CVS okanye iiseli ze-fetal ezivela kwi-amniocentesis, oogqirha banokuyilungisa i-karyotype, engumfanekiso we-chromosome yomntwana. Ngamanye amaxesha ukuxilongwa kungenziwa kuze kube yilapho umntwana ezalwa, kwaye i-karyotype iyalelwe ukuba iqinisekiswe.
Igama elivela kwi-Verywell
Kuyatshitshisa kwaye kudideke ukuba uxelelwe umntwana wakho unesifo somzimba, kungakhathaliseki ukuba imeko leyo ingaba nzima kangakanani. Ukuba ulahleka umntwana kunye ne-trisomy 9, kufuneka ukwazi ukuba ukuphuphuma kwesisu akuyiyo iphoso lakho, kwaye iingxaki ziphantsi ukuba ukukhulelwa kwakho okuzayo kuya kuthinteka. Ngokudabukisayo, ukukhathazeka kwe-trisomy yinto enye yezinto ezenzeka ngezinye izihlandlo.
Ukuba ngaba uvavanyo olukhulelweyo kunye nolwasemva lufumene i-trisomy 9, kubalulekile ukuthetha nomcebisi wezofuzo ezinamava okanye i-geneticist. Akukho naluphi unyango lwe-trisomy 9, kwaye unyango luxhomekeka kwimpawu kunye neempawu zodwa zempawu.
> Imithombo:
> IMiryounesi M, i-Dianatpour M, i-Shadmani Z, i-Ghafouri-Fard S. Ingxelo yecala nge-trisomy 9 yomzobo. I-Iran J Med Sci . Ngo-2016 ngoMeyi; 41 (3): 249-52.
> NIH. Iziko leNgcaciso loLuntu lweGenesis neRareases. (2015). I-Mosaic trisomy 9.
> Schwendenmann WD et al. Ukufunyanwa kweeNkcukacha kwi-trisomy 9. J Ultrasound Med . 2009 Jan; 28 (1): 39-42.
> Zen PR, Rosa RF, Rosa RC, Graziadio C, Paskulin GA. Umbiko omtsha wezigulane ezimbini ezine-trisomy 9 zemifanekiso ezibonisa iimpawu ezingaqhelekanga kunye nokuhlala ixesha elide. Sao Paulo Med J. 2011 Dec; 129 (6): 428-32.