ITrisomy 13

I-Trisomy 13 (ekwabizwa ngokuba yi-Patau syndrome) sisifo semfuza apho umntu eneekopi ezi-3 zezinto zemvelo ezivela kwi-chromosome 13, endaweni yeekopi ezi-2 eziqhelekileyo. Rhoqo, izinto ezongezelelweyo zinokuqhotyoshelwa kwenye i-chromosome (ukutshintshwa).

I-Trisomy 13 yenzeka xa i-DNA eyongezelelweyo esuka kwi-chromosome 13 ivela kwezinye okanye kuzo zonke iiseli zomzimba.

• I-Trisomy 13: ubukho be-chromosome 13 eyongezelelweyo (yesithathu) kuzo zonke iiseli.
• I-mosaic trisomy 13: ubukho be-chromosome eyongezelelweyo 13 kwezinye iiseli.
• Inxalenye yetrisomy 13: ubukho benxalenye ye-chromosome 13 eyongezelelweyo kwiiseli.

Izinto ezongezelelweyo ziphazamisa ukukhula okuqhelekileyo.

I-Trisomy 13 ivela malunga no-1 kwabayi-10 000 abasanda kuzalwa. Uninzi lweziganeko azidluliswanga kwiintsapho (ezizuzwe njengelifa). Endaweni yoko, iziganeko ezikhokelela kwi-trisomy 13 zenzeka nokuba kukwisidoda okanye kwiqanda elenza umbungu.

Iimpawu zibandakanya:

• Umlomo ococekileyo okanye inkalakahla
• Izandla eziCinyiweyo (ngeminwe yangaphandle ngaphezulu kweminwe yangaphakathi)
• Amehlo asetwe ngamehlo-amehlo anokudibana kunye
• Ukuncipha kwemisipha
• Iminwe eyongezelelweyo okanye iinzwane (polydactyly)
• I-Hernias: i-hernia ye-umbilical hernia, inguinal hernia
• Umngxunya, ukwahlukana, okanye ukucandeka kwi-iris (coloboma)
• Iindlebe ezisezantsi
• Ukukhubazeka kwengqondo, kunzima
• Iziphene ze-scalp (isikhumba esilahlekileyo)
• Ukuxhuzula
• Isundu esinye sentsimbi
• Ukuqaqanjelwa ngamathambo (amalungu)
• Amehlo amancinci
• Intloko encinci (microcephaly)
• Umhlathi omncinci osezantsi (micrognathia)
• Ityhalarha elingachazwanga (i-cryptorchidism)

Usana lunokuba nomthambo omnye wokuzalwa xa luzalwa. Kukho rhoqo iimpawu zesifo sentliziyo, ezinje:

• Ukubekwa ngendlela engaqhelekanga kwentliziyo kwicala lasekunene lesifuba endaweni yasekhohlo
• Isiphene se-Atrial septal
• Ipatent ductus arteriosus
• Isiphene se-Ventricular septal

I-x-ray yesisu okanye i-ultrasound ingabonisa ukujikeleza kwamalungu angaphakathi.

Ukuvavanywa kwentloko ye-MRI okanye ye-CT kunokubonisa ingxaki kulwakhiwo lobuchopho. Ingxaki ibizwa ngokuba yi holoprosencephaly. Kukudibana kwamacala amabini engqondo.

Izifundo zeChromosome zibonisa i-trisomy 13, i-trisomy 13 mosaicism, okanye i-trisomy ekhethekileyo.

Akukho lunyango oluthile lwe-trisomy 13. Unyango luyahlukahluka ukusuka emntwaneni kuye emntwaneni kwaye kuxhomekeke kwiimpawu ezithile.

Amaqela enkxaso ye-trisomy 13 aquka:

• Umbutho weNkxaso yeTrisomy 18, 13 kunye nokuphazamiseka okunxulumene noko (SOFT): trisomy.org
• Ithemba leTrisomy 13 kunye ne-18: www.hopefortrisomy13and18.org

Ngaphezulu kwe-90% yabantwana abane-trisomy 13 abafayo kunyaka wokuqala.

Iingxaki ziqala phantse kwangoko. Uninzi lweentsana ezine-trisomy 13 zinezifo zentliziyo yokuzalwa.

Iingxaki zinokubandakanya:

• Ukuphefumla ubunzima okanye ukungabikho kokuphefumla (i-apnea)
• Izithulu
• Iingxaki zokondla
• Ukumelwa yintliziyo
• Ukuxhuzula
• Iingxaki zombono

Fowunela umboneleli wakho wezempilo ukuba unomntwana one-trisomy 13 kwaye uceba ukuba nomnye umntwana. Iingcebiso ngemfuzo zinokunceda iintsapho ziqonde imeko, umngcipheko wokuyifumana njengelifa, kunye nendlela yokukhathalela umntu.

I-Trisomy 13 inokuchongwa ngaphambi kokuzalwa yi-amniocentesis ngezifundo ze-chromosome zeeseli ze-amniotic.

Abazali beentsana ezine-trisomy 13 ezibangelwa kukufuduswa kufuneka zibe novavanyo lofuzo kunye neengcebiso. Oku kunokubanceda ukuba babenolwazi ngamathuba okuba babe nomnye umntwana onale meko.

Isifo sePatau

• Polydactyly - isandla somntwana
• Ngokudibeneyo

I-Bacino CA, uLee B. ICytogenetics. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, ii-eds. Incwadi kaNelson yeNcwadi yePediatrics. Umhla wama-21. IPhiladelphia, PA: Elsevier; 2020: isahluko 98.

UMadan-Khetarpal S, uArnold G.Ukuphazamiseka kwemfuza kunye neemeko zedysmorphic. Ku: Zitelli BJ, McIntire SC, Nowalk AJ, ii-eds. UZitelli no-Davis ’Atlas of Pediatric Physical Diagnosis. Umhla wesi-7. IPhiladelphia, PA: Elsevier; I-2018: isahluko 1.