Trisomy 13

Trisomy 13 (wanda kuma ake kira cutar Patau) cuta ce ta kwayar halitta wacce mutum ke da kwafi 3 na kayan kwayar halitta daga chromosome 13, maimakon kwafi 2 da aka saba. Ba da daɗewa ba, ana iya haɗa ƙarin kayan zuwa wani chromosome (sauyawa).

Trisomy 13 na faruwa yayin ƙarin DNA daga chromosome 13 ya bayyana a cikin wasu ko duka ƙwayoyin jiki.

• Trisomy 13: kasancewar ƙarin (na uku) chromosome 13 a cikin duka ƙwayoyin.
• Musa trisomy 13: kasancewar ƙarin chromosome 13 a cikin wasu ƙwayoyin.
• Rabin trisomy 13: kasancewar wani ɓangare na ƙarin chromosome 13 a cikin ƙwayoyin.

Materialarin kayan yana tsangwama tare da ci gaban al'ada.

Trisomy 13 tana faruwa a kusan 1 cikin kowane jarirai 10,000. Yawancin lokuta ba a barsu ta hanyar dangi (gado). Madadin haka, abubuwan da ke haifar da trisomy 13 suna faruwa ne a cikin ko dai cikin maniyyi ko kuma ƙwai da ke samar da ɗan tayi.

Kwayar cutar sun hada da:

• Lipagaggen leɓe ko ɗanɗano
• Hannun hannaye (tare da yatsunsu waje na saman yatsun ciki)
• Karkatattun idanu - idanuwa na iya haɗuwa wuri ɗaya zuwa ɗaya
• Rage sautin tsoka
• Fingersarin yatsu ko yatsun kafa (polydactyly)
• Hernias: hernia na cikin ƙwayoyin cuta, inguinal hernia
• Rami, tsaga, ko tsaguwa a cikin iris (coloboma)
• -Ananan kunnuwa
• Rashin hankali na hankali, mai tsanani
• Launin fatar kan mutum (ɓacewar fata)
• Kamawa
• Parfafawar alamomin guda ɗaya
• Kwarangwal (gaɓo) na rashin lafiya
• Eyesananan idanu
• Headananan kai (microcephaly)
• Lowerananan ƙananan muƙamuƙi (micrognathia)
• Gwajin mara izini (cryptorchidism)

Jariri na iya samun jijiya guda ɗaya a lokacin haihuwa. Sau da yawa akwai alamun cututtukan cututtukan zuciya, kamar:

• Sanya wuri mara kyau na zuciya zuwa gefen dama na kirji maimakon na hagu
• Defectunƙarar raunin atrial
• Patent ductus arteriosus
• Defectaramar ƙwanƙwasa mara kyau

Rigunonin hanji na ciki ko duban dan tayi na iya nuna juyawar kayan ciki.

Siffar MRI ko CT na kai na iya bayyana matsala tare da tsarin kwakwalwa. Ana kiran matsalar holoprosencephaly. Haɗuwa ne tare da ɓangarorin 2 na kwakwalwa.

Karatun chromosome yana nuna trisomy 13, trisomy 13 mosaicism, ko kuma trisomy.

Babu takamaiman magani don trisomy 13. Magani ya bambanta daga yaro zuwa yaro kuma ya dogara da takamaiman alamun.

Kungiyoyin tallafi na trisomy 13 sun hada da:

• Organizationungiyar Tallafi don Trisomy 18, 13 da Cutar Dama (SOFT): trisomy.org
• Fata don Trisomy 13 da 18: www.hopefortrisomy13and18.org

Fiye da 90% na yara masu cutar trisomy 13 sun mutu a shekarar farko.

Matsaloli suna farawa kusan nan da nan. Yawancin jarirai masu trisomy 13 suna da cututtukan zuciya da suka dace.

Matsaloli na iya haɗawa da:

• Matsalar numfashi ko rashin numfashi (apnea)
• Kurma
• Matsalar ciyarwa
• Ajiyar zuciya
• Kamawa
• Matsalar hangen nesa

Kira ga mai kula da lafiyar ku idan kuna da ɗa mai nauyin trisomy 13 kuma kuna shirin samun ɗa. Shawarwarin kwayoyin halitta na iya taimaka wa iyalai fahimtar yanayin, haɗarin gadonsa, da yadda za a kula da mutum.

Trisomy 13 ana iya bincikar ta kafin haihuwa ta hanyar amniocentesis tare da nazarin chromosome na ƙwayoyin halittar ciki.

Iyayen jarirai masu trisomy 13 wanda ke faruwa ta hanyar canza wuri ya kamata suyi gwajin kwayar halitta da shawara. Wannan na iya taimaka musu su lura da damar samun wani ɗa da ke cikin yanayin.

Ciwon Patau

• Polydactyly - hannun jariri
• Aiki tare

Bacino CA, Lee B. Cytogenetics. A cikin: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Littafin koyar da ilimin yara. 21st ed. Philadelphia, PA: Elsevier; 2020: babi na 98.

Madan-Khetarpal S, Arnold G. Rashin lafiyar kwayoyin halitta da yanayin dysmorphic. A cikin: Zitelli BJ, McIntire SC, Nowalk AJ, eds. Zitelli da Davis 'Atlas na Ciwon Lafiyar Jiki na Yara. 7th ed. Philadelphia, PA: Elsevier; 2018: babi na 1.