Kev Sib Tw 13

Trisomy 13 (tseem hu ua Patau syndrome) yog kev mob caj ces uas ib tug neeg muaj 3 daim ntawv theej ntawm cov khoom siv xoos ntawm chromosome 13, hloov dua li ib txwm 2 daim. Tsis tshua muaj, cov khoom siv ntxiv yuav raug txuas nrog rau lwm tus chromosome (chaw txav chaw).

Trisomy 13 tshwm sim thaum cov DNA ntxiv los ntawm chromosome 13 tshwm sim hauv qee lossis tag nrho lub cev lub cev.

• Trisomy 13: kev muaj ntxiv ib qho thib peb (thib peb) chromosome 13 nyob rau hauv tag nrho cov keeb.
• Mosaic trisomy 13: qhov tseem nyob ntawm ib qho ntxiv cov chromosome 13 nyob hauv qee cov keeb.
• Ib nrab trisomy 13: muaj ib feem ntawm ib qho ntxiv cov chromosome 13 nyob hauv cov hlwb.

Cov khoom ntxiv cuam tshuam nrog kev txhim kho ib txwm.

Trisomy 13 tshwm sim hauv kwv yees li ntawm 1 ntawm txhua 10,000 tus menyuam mos yug tshiab. Feem ntau tsis kis dhau los ntawm cov tsev neeg (tau txais los). Hloov chaw, cov xwm txheej uas ua rau trisomy 13 tshwm sim hauv cov phev los yog lub qe uas ua tus me nyuam hauv plab.

Cov tsos mob muaj xws li:

• Ciav di ncauj lossis daim di ncauj
• Xuas tes (nrog ntiv tes sab saud sab hauv)
• Lub qhov muag kaw-lub qhov muag yuav tau fuse ua ke rau hauv ib qho
• Kev txo qhov nqaij leeg
• Ntxiv ntiv tes lossis ntiv taw (polydactyly)
• Hernias: hlaws pob txha caj qaum, plab hnyuv plab
• Qhov, txiav tawm, los yog sib cais hauv cov qhov muag (coloboma)
• Tsawg pob ntseg pob ntseg
• Kev xiam oob qhab, hnyav
• Cov tawv nqaij tsis xws luag (ua kom tawv nqaij ploj)
• Qaug dab peg
• Ib leeg sawv xim
• Skeletal (nqua) qhov txawv txav
• Qhov muag me me
• Lub taub hau me me (microcephaly)
• Cov me hauv qab ntawm lub puab tsaig (micrognathia)
• Cov noob qes uas tsis cia siab (cryptorchidism)

Tus menyuam mos yuav muaj txoj hlab ntaws thaum yug los. Muaj ntau cov tsos mob ntawm tus kab mob ua ntej, xws li:

• Kev tso lub siab tsis zoo ntawm lub siab mus rau sab xis ntawm lub hauv siab es tsis txhob sab laug
• Atrial septal kho mob
• Patent ductus arteriosus
• Ventricular septal teem meem

Lub plab xoo hluav taws xob xoo lossis duab hluav taws xob yuav qhia pom kev sib hloov ntawm cov khoom nruab nrog sab hauv.

MRI lossis CT scans ntawm lub taub hau yuav qhia qhov teeb meem nrog cov qauv ntawm lub hlwb. Qhov teeb meem no hu ua holoprosencephaly. Nws yog kev sib koom ua ke ntawm 2 ob sab ntawm lub paj hlwb.

Kev tshawb nrhiav ntawm lub cev qhia trisomy 13, trisomy 13 mosaicism, lossis ib nrab trisomy.

Tsis muaj kev kho tshwj xeeb rau tus mob trisomy 13. Kev kho mob sib txawv ntawm cov me nyuam rau ib tus thiab nyob ntawm cov tsos mob tshwj xeeb

Pawg sib txhawb rau trisomy 13 muaj xws li:

• Lub Koom Haum Txhawb rau Trisomy 18, 13 thiab Lwm Yam Kev Ntxhov Siab (SOFT): trisomy.org
• Muaj Kev Cia Siab rau Trisomy 13 thiab 18: www.hopefortrisomy13and18.org

Ntau tshaj li 90% ntawm cov menyuam yaus uas muaj mob luag ntxhw 13 tuag hauv thawj xyoo.

Teeb meem pib yuav luag tam sim ntawd. Feem ntau cov menyuam mos liab uas muaj trisomy 13 muaj kab mob hauv lub plawv.

Teeb meem yuav suav nrog:

• Ua pa nyuaj lossis tsis ua pa (ua pa)
• Cov lag ntseg
• Pub teeb meem
• Lub plawv tsis ua hauj lwm
• Qaug dab peg
• Cov teeb meem tsis pom kev

Hu rau koj tus kws kho mob yog tias koj muaj ib tug menyuam yaus uas tsis paub qab hau 13 thiab koj npaj yuav muaj lwm tus menyuam ntxiv. Kev qhuab ntuas caj ces tuaj yeem pab tsev neeg nkag siab txog qhov mob, kev pheej hmoo ntawm kev tau txais qhov ntawd, thiab kev saib xyuas tus neeg li cas.

Kev kuaj mob Trisomy 13 tuaj yeem txheeb tau ua ntej yug los ntawm amniocentesis nrog kev tshawb nrhiav keeb kwm ntawm amniotic hlwb.

Cov niam txiv ntawm cov me nyuam mos uas muaj trisomy 13 uas yog tshwm sim los ntawm qhov hloov chaw yuav tsum tau kuaj caj thiab tawm tswv yim. Qhov no yuav pab lawv paub txog qhov yuav muaj ib tug menyuam nrog tus mob no.

Mob tuag tes tuag taw

• Polydactyly - tus menyuam mos liab tes
• Syndactyly

Bacino CA, Lee B. Cytogenetics. Hauv: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Phau Ntawv ntawm PediatricsCov. 21st ed. Philadelphia, PA: Elsevier; 2020: cha 98.

S Madan-Khetarpal S, Arnold G. Kev qhia tshuaj rau caj ces tsis zoo thiab lub cev mob. Hauv: Zitelli BJ, McIntire SC, Nowalk AJ, eds. Zitelli thiab Davis 'Atlas Kev Kuaj Mob Rau Menyuam yausCov. 7 tus ed. Philadelphia, PA: Elsevier; 2018: chap 1.