Trisomy 13

Trisomy 13 (yotchedwanso matenda a Patau) ndimatenda amtundu momwe munthu amakhala ndi makope atatu a majini ochokera ku chromosome 13, m'malo mwa makope awiri. Nthawi zambiri, zowonjezera zimatha kulumikizidwa ndi chromosome ina (translocation).

Trisomy 13 imachitika pamene DNA yowonjezera yochokera ku chromosome 13 imawonekera m'maselo ena kapena mthupi lonse.

• Trisomy 13: kupezeka kwa chromosome 13 yowonjezera (yachitatu) m'maselo onse.
• Mosaic trisomy 13: kupezeka kwa chromosome yowonjezera 13 m'maselo ena.
• Trisomy 13 yapadera: kupezeka kwa gawo la chromosome 13 yowonjezera m'maselo.

Zowonjezera zimasokoneza chitukuko chabwinobwino.

Trisomy 13 imapezeka mwa mwana m'modzi mwa ana 10,000 aliwonse obadwa kumene. Nkhani zambiri sizimaperekedwa kudzera m'mabanja (obadwa nawo). M'malo mwake, zomwe zimayambitsa trisomy 13 zimachitika mwina umuna kapena dzira lomwe limapanga mwana wosabadwa.

Zizindikiro zake ndi izi:

• Lambulani mlomo kapena m'kamwa
• Manja okuta (ndi zala zakunja pamwamba pa zala zamkati)
• Maso otsekedwa - maso atha kusakanikirana pamodzi
• Kuchepetsa kuchepa kwa minofu
• Zowonjezera zala kapena zala (polydactyly)
• Hernias: hernia umbilical, hernia inguinal
• Khola, kugawanika, kapena kupindika mu iris (coloboma)
• Makutu otsika
• Kulemala kwamaluso, koopsa
• Zolakwika za khungu (khungu losowa)
• Kugwidwa
• Mng'alu umodzi wamanja
• Mafupa (nthambi) zovuta
• Maso ang'onoang'ono
• Mutu wawung'ono (microcephaly)
• Nsagwada yaying'ono (micrognathia)
• Thumba losasunthika (cryptorchidism)

Khanda limakhala ndi mtsempha umodzi wobadwa pobadwa. Nthawi zambiri pamakhala zizindikilo za matenda obadwa nawo amtima, monga:

• Kukhazikika kwa mtima kumbali yakumanja ya chifuwa m'malo kumanzere
• Matenda osokoneza bongo
• Maluso a patent ductus arteriosus
• Ventricular septal chilema

Mitsempha ya m'mimba x-ray kapena ultrasound imatha kuwonetsa kuzungulira kwa ziwalo zamkati.

Kujambula kwa MRI kapena CT pamutu kumatha kuwonetsa vuto ndi kapangidwe ka ubongo. Vutolo limatchedwa holoprosencephaly. Ndikulumikizana kwammbali ziwiri zaubongo.

Kafukufuku wa Chromosome akuwonetsa trisomy 13, trisomy 13 mosaicism, kapena trisomy pang'ono.

Palibe mankhwala enieni a trisomy 13. Chithandizo chimasiyanasiyana mwana ndi mwana ndipo zimatengera zizindikilo zake.

Magulu othandizira a trisomy 13 ndi awa:

• Support Organisation ya Trisomy 18, 13 and Related Disorders (SOFT): trisomy.org
• Chiyembekezo cha Trisomy 13 ndi 18: www.hopefortrisomy13and18.org

Oposa 90% a ana omwe ali ndi trisomy 13 amamwalira mchaka choyamba.

Zovuta zimayamba pafupifupi nthawi yomweyo. Makanda ambiri omwe ali ndi trisomy 13 amakhala ndi matenda amtima obadwa nawo.

Zovuta zingaphatikizepo:

• Kupuma kovuta kapena kusapuma bwino (kupuma)
• Kugontha
• Mavuto akudya
• Mtima kulephera
• Kugwidwa
• Mavuto masomphenya

Itanani omwe akukuthandizani ngati muli ndi mwana wamtundu wa trisomy 13 ndipo mukufuna kukhala ndi mwana wina. Upangiri wa chibadwa ungathandize mabanja kumvetsetsa za vutoli, kuopsa kotengera, komanso momwe angasamalire munthuyo.

Trisomy 13 imatha kupezeka asanabadwe ndi amniocentesis ndimaphunziro a chromosome am'magazi amniotic.

Makolo a makanda omwe ali ndi trisomy 13 omwe amayamba chifukwa cha kusamuka ayenera kukhala ndi kuyesa kwa majini ndi upangiri. Izi zingawathandize kudziwa mwayi wokhala ndi mwana wina amene ali ndi vutoli.

Matenda a Patau

• Polydactyly - dzanja la khanda
• Mgwirizano

Bacino CA, Lee B. Cytogenetics. Mu: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, olemba. Nelson Textbook of Pediatrics. Wolemba 21. Philadelphia, PA: Elsevier; 2020: chap 98.

Madan-Khetarpal S, Arnold G. Matenda amtundu komanso zovuta za dysmorphic. Mu: Zitelli BJ, McIntire SC, Nowalk AJ, eds. Zitelli ndi Davis ’Atlas of Pediatric Physical Diagnosis. Wachisanu ndi chiwiri. Philadelphia, PA: Elsevier; 2018: mutu 1.