Deteksi Penyebab Retardasi Mental pada Keluarga Penyandang Retardasi Mental di Desa Padangan Kediri

Abstrak

Background: Many family member were found with mental retardation in Padangan village, Kediri. Previous research showed students with trisomy 21, triple X syndrome dan suspect Fragile X syndrome in SLB Pelita Hati, Padangan Village, Kediri. Aims: To determine chromosomal abnormality and mutation in CGG repeat FMR1 gene in family with history mental retardation Methods: Cytogenetics analysis and PCR analysis to see mutation in CGG repeat FMR1 gene Results: From 12 samples, were found 2 pericentric inversion in Chromosome 9 and 1 Trisomy 21. Conclusion: Chromosomal abnormality was encountered in one student. Structural abnormality were seen in one student and his father. No mutation was found in FMR1 gene caused Fragile X syndrome in students and families.