Identifikasi Penyebab Retardasi Mental Siswa SLB Melalui Analisis Sitogenetik dan PCR

Retardasi mental dapat disebabkan oleh faktor genetik yaitu kelainan kromosom atau gen tunggal. Penelitian ini bertujuan untuk mengetahui penyebab kelainan genetik pada anak-anak dengan retardasi mental. Sampel penelitian adalah 18 siswa SLB Pelita Hati diambil 14 yang memenuhi kriteria inklusi. Sampel diambil dari darah tepi untuk dilakukan analisis kromosom dan PCR untuk melihat pemanjangan pengulangan CGG pada gen FMR1. Dari 14 siswa yang terlibat di dalam penelitian, 10 siswa menjalani analisis kromosom dan dilanjutkan dengan analisis PCR, 2 siswa hanya menjalani analisis kromosom dan 2 siswa hanya menjalani analisis PCR. Hasil analisis kromosom pada 12 siswa, didapatkan satu siswa dengan trisomi 21 (47,XX,+21), satu siswa dengan trisomi X (47,XXX) dan yang lain memiliki karyotip normal (46,XY atau 46,XX). Pada pemeriksaan PCR, tidak ditemukan siswa dengan pemanjangan pengulangan CGG.

• Publication year

  2016

• Venue

  Jurnal Kedokteran Brawijaya

• Publication date

  2016-01-29

• Fields of study

  Not labeled

• Identifiers
  DOI 10.21776/ub.jkb.2016.029.01.16
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar

• No claims are published for this paper.

• No concepts are published for this paper.

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