I-Trisomy 13

I-Trisomy 13 (ebizwa nangokuthi i-Patau syndrome) yisifo sofuzo lapho umuntu enamakhophi ama-3 wezinto zofuzo ezivela ku-chromosome 13, esikhundleni samakhophi amabili ajwayelekile. Kukaningi, impahla eyengeziwe ingaxhunyaniswa nenye i-chromosome (translocation).

I-Trisomy 13 yenzeka lapho i-DNA eyengeziwe evela kwi-chromosome 13 ivela kwamanye noma kuwo wonke amaseli omzimba.

• I-Trisomy 13: ukutholakala kwe-chromosome 13 eyengeziwe (yesithathu) kuwo wonke amaseli.
• I-Mosaic trisomy 13: ukutholakala kwe-chromosome eyengeziwe 13 kwamanye amaseli.
• I-trisomy 13 ehlukile: ukutholakala kwengxenye ye-chromosome 13 eyengeziwe kumaseli.

Izinto ezengeziwe ziphazamisa ukukhula okujwayelekile.

I-Trisomy 13 ivela cishe kwengu-1 kwezingu-10 000 ezisanda kuzalwa. Amacala amaningi awadluliswa ngemindeni (ezuzwe njengefa). Esikhundleni salokho, izehlakalo eziholela ku-trisomy 13 zenzeka noma isidoda noma iqanda elenza umbungu.

Izimpawu zifaka:

• I-Cleft lip noma ulwanga
• Izandla ezigoqiwe (ngeminwe yangaphandle ngaphezulu kweminwe yangaphakathi)
• Amehlo asethwe ngamehlo - amehlo angahlangana abe munye
• Ukwehla kwethoni yemisipha
• Iminwe noma izinzwane ezingeziwe (polydactyly)
• I-Hernias: i-hernia ye-umbilical, i-hernia inguinal
• I-Hole, ihlukaniswe, noma ihlukaniswe ku-iris (coloboma)
• Izindlebe eziphansi
• Ukukhubazeka kwengqondo, kunzima
• Ukukhubazeka kwesikhumba sekhanda (isikhumba esilahlekile)
• Ukuquleka
• Isundu elilodwa lesundu
• Ukukhubazeka kwamathambo (isitho)
• Amehlo amancane
• Ikhanda elincane (i-microcephaly)
• Umhlathi omncane ophansi (micrognathia)
• Isende elingakahlanjululwa (i-cryptorchidism)

Usana lungaba nomthambo owodwa wombilical lapho luzalwa. Kukhona kaningi izimpawu zesifo senhliziyo esizelwe, njenge:

• Ukubekwa okungajwayelekile kwenhliziyo ohlangothini lwesokunene sesifuba esikhundleni sobunxele
• Isici se-atrial septal
• I-patent ductus arteriosus
• Isici se-septal se-Ventricular

Ama-x-rays emathunjini noma i-ultrasound ingakhombisa ukujikeleza kwezitho zangaphakathi.

Ukuhlolwa kwekhanda kwe-MRI noma kwe-CT kungaveza inkinga ngesakhiwo sobuchopho. Inkinga ibizwa ngokuthi i-holoprosencephaly. Kungukuhlangana ndawonye kwezinhlangothi ezi-2 zobuchopho.

Ucwaningo lweChromosome lubonisa i-trisomy 13, i-trisomy 13 mosaicism, noma i-trisomy eyingxenye.

Akukho ukwelashwa okuqondile kwe-trisomy 13. Ukwelashwa kuyahlukahluka kuye ngengane kuya ngezimpawu ezithile.

Amaqembu okusekela i-trisomy 13 afaka:

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

Ngaphezu kwezingane ezingama-90% ezine-trisomy 13 ziyafa ngonyaka wokuqala.

Izinkinga ziqala cishe ngokushesha. Iningi lezinsana ezine-trisomy 13 linezifo zenhliziyo ezizalwe nazo.

Izinkinga zingafaka:

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

Shayela umhlinzeki wakho wezokunakekelwa kwezempilo uma ngabe unengane ene-trisomy 13 futhi uhlela ukuba nenye ingane. Ukwelulekwa ngofuzo kungasiza imindeni ukuthi iqonde isimo, nobungozi bokuyithola njengefa, nokuthi ungamnakekela kanjani lowo muntu.

I-Trisomy 13 ingatholakala ngaphambi kokuzalwa yi-amniocentesis ngezifundo ze-chromosome zamaseli e-amniotic.

Abazali bezinsana ezine-trisomy 13 okubangelwa ukuhanjiswa kufanele babe nokuhlolwa kofuzo nokwelulekwa. Lokhu kungabasiza ukuthi bazi ngamathuba okuthola enye ingane enalesi sifo.

IPatau syndrome

• I-Polydactyly - isandla sengane
• 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.