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Fera Novianti
Dokter Umum, Denpasar, Bali, Indonesia
Health Professions Medicine & Pharmacology Public Health

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Aspek Klinis Trisomi 13 Fera Novianti
Cermin Dunia Kedokteran Vol 47, No 1 (2020): CME - Continuing Medical Education
Publisher : PT. Kalbe Farma Tbk.

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.55175/cdk.v47i1.331

Abstract

Trisomi 13 (sindrom Patau) merupakan kelainan kromosom yang ditandai dengan ekstra duplikasi kromosom 13. Penyakit ini dapat menyebabkan berbagai abnormalitas fisik dan kegagalan multiorgan, anomali sistem saraf pusat, serta retardasi mental berat. Penegakkan diagnosis dapat dilakukan dengan pemeriksaan prenatal. Trisomy 13 (Patau syndrome) is one of the chromosome abnormalities characterized by extra duplications of chromosome 13. This disease can cause various physical abnormalities and multiple organ failure, central nervous system anomalies as well as severe mental retardation. Diagnosis is by prenatal examination.
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