I-Trisomy 18

I-Trisomy 18 yisifo sofuzo lapho umuntu enekhophi lesithathu lezinto ezivela ku-chromosome 18, esikhundleni samakhophi amabili ajwayelekile. Amacala amaningi awadluliswa ngemindeni. Esikhundleni salokho, izinkinga eziholela kulesi simo zenzeka noma isidoda noma iqanda elenza umbungu.

I-Trisomy 18 ivela koku-1 kokuzalwa oku-6000 okuphilayo. Kujwayeleke kakhulu emantombazaneni kunabafana.

Lesi sifo sivela lapho kunokwaziswa okwengeziwe okuvela ku-chromosome 18. Izinto ezengeziwe zithinta ukukhula okujwayelekile.

• I-Trisomy 18: ukutholakala kwe-chromosome 18 eyengeziwe (yesithathu) kuwo wonke amaseli.
• I-mosaic trisomy 18: ukutholakala kwe-chromosome eyengeziwe 18 kwamanye amaseli.
• I-trisomy 18 ehlukile: ukutholakala kwengxenye ye-chromosome eyengeziwe 18 kumaseli.

Amacala amaningi we-Trisomy 18 awadluliselwa emindenini (ezuzwe njengefa). Esikhundleni salokho, izehlakalo eziholela ku-trisomy 18 zenzeka noma isidoda noma iqanda elenza umbungu.

Izimpawu zingafaka:

• Izandla ezigoqiwe
• Imilenze evundlile
• Izinyawo ezinaphansi okuyindilinga (izinyawo ezingezansi kwe-rocker)
• Isisindo sokuzalwa esiphansi
• Izindlebe eziphansi
• Ukubambezeleka kwengqondo
• Izinzipho ezithuthukiswe kabi
• Ikhanda elincane (i-microcephaly)
• Umhlathi omncane (micrognathia)
• Isende elingehlisiwe
• Isifuba esenziwe ngendlela engavamile (pectus carinatum)

Ukuhlolwa ngesikhathi sokukhulelwa kungakhombisa isibeletho esikhulu ngokungavamile kanye ne-amniotic fluid eyengeziwe. Kungaba neplasenta elincane ngokungajwayelekile lapho ingane izalwa. Ukuhlolwa ngokomzimba kosana kungakhombisa izici zobuso ezingavamile namaphethini weminwe. I-X ray ingakhombisa ithambo lesifuba elifushane.

Ucwaningo lwe-Chromosome luzokhombisa i-trisomy 18. Ukungajwayelekile kwe-chromosome kungaba khona kuwo wonke amaseli noma kube khona kuphela kumaphesenti athile amaseli (abizwa nge-mosaicism). Izifundo zingakhombisa nengxenye ye-chromosome kwamanye amaseli. Imvamisa, ingxenye ye-chromosome 18 inamathela kwenye i-chromosome. Lokhu kubizwa ngokuthi ukuhanjiswa.

Ezinye izimpawu zifaka:

• I-Hole, ihlukaniswe, noma ihlukaniswe ku-iris yeso (coloboma)
• Ukwehlukaniswa phakathi kohlangothi lwesobunxele nangakwesokudla semisipha yesisu (diastasis recti)
• I-hernia eyi-umbilical noma i-hernia inguinal

Kukhona kaningi izimpawu zesifo senhliziyo esizelwe, njenge:

• I-Atrial septal defect (ASD)
• I-Patent ductus arteriosus (i-PDA)
• Isici se-Ventricular septal (VSD)

Ukuhlolwa kungakhombisa nezinkinga zezinso, kufaka phakathi:

• Izinso zehorseshoe
• I-Hydronephrosis
• Izinso zePolycystic

Azikho izindlela ezithile zokwelashwa ze-trisomy 18. Yikuphi ukwelashwa okusetshenzisiwe kuncike esimweni somuntu ngamunye.

Amaqembu okusekela afaka:

• Inhlangano Yokusekela iTrisomy 18, 13 kanye Nezinkinga Ezihlobene (SOFT): trisomy.org
• Isisekelo seTrisomy 18: www.trisomy18.org
• Ithemba leTrisomy 13 no-18: www.hopefortrisomy13and18.org

Ingxenye eyodwa yezinsana ezinalesi sifo aziphili ngale kwesonto lokuqala lokuphila. Izingane eziyisishiyagalolunye kweziyishumi zizofa ngonyaka owodwa ubudala. Ezinye izingane zisinde eminyakeni yobusha, kepha ngezinkinga ezinkulu zezokwelapha nezentuthuko.

Izinkinga zincike emaphutheni nasezimpawu ezithile.

Izinkinga zingafaka:

• Ubunzima bokuphefumula noma ukungaphefumuli (i-apnea)
• Izithulu
• Izinkinga zokondla
• Ukwehluleka kwenhliziyo
• Ukuquleka
• Izinkinga zombono

Ukwelulekwa ngofuzo kungasiza imindeni ukuthi iqonde isimo, nezingozi zokuyithola njengefa, nokuthi ungamnakekela kanjani lowo muntu.

Ukuhlolwa kungenziwa ngesikhathi sokukhulelwa ukuthola ukuthi ingane inayo yini le syndrome.

Ukwelulekwa ngofuzo kunconyelwe abazali abanengane enalesi sifo futhi abafuna ukuba nezingane eziningi.

Edwards syndrome

• Ngokuvumelana

IBacino CA, uLee B. ICytogenetics. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Incwadi kaNelson Yezingane. Umhlaka 21. IPhiladelphia, PA: Elsevier; 2020: isahluko 98.

IMadan-Khetarpal S, i-Arnold G.Izinkinga zofuzo nezimo ze-dysmorphic. Ku: Zitelli BJ, McIntire SC, Nowalk AJ, ama-eds. UZitelli noDavis ’Atlas of Pediatric Physical Diagnosis. Umhla wesi-7. IPhiladelphia, PA: Elsevier; 2018: isahluko 1.