Genetic Abnormalities in Down Syndrome
DOI:
https://doi.org/10.53089/medula.v15i2.926Keywords:
Down syndrome, chromosome, genesAbstract
Down syndrome (SD) is a common and easily recognized genetic disorder. In the genetic disorder trisomy or SD, there is an extra chromosome on chromosome 21. This chromosome causes the production of certain proteins in excessive amounts, thus disrupting the normal growth of the organism and causing changes in brain development. The estimated incidence of SD is one in 800-1000 births. The incidence of SD in the world is 10 per 10,000 live births, and in recent years this figure has increased. The World Health Organization (WHO) estimates that there are around 8 million SD sufferers worldwide. In Indonesia itself, the prevalence of SD is 1 per 600 live births. Down syndrome is a condition where the sufferer has retarded physical and mental development due to abnormal chromosome development. Chromosomes contain genetic material that determines human characteristics, so that some children with Down syndrome will usually experience mental disabilities, whether mild or moderate.
References
Irwanto, Wucaksono H, Ariefa A , Samosir SM. A-Z Sindrom Down. Edisi ke-1. Surabaya: Airlangga University Press; 2019.
Menkes JH, Falk RE. Chromosomal anomalies and contiguous gene syndromes. Edisi ke-6. Los Angeles: Lippincott Williams & Wilkins; 2000.
Leshin L. Trisomy 21: The story of Down syndrome. Toronto: Wiley; 2002
Sherman SL, Allen EG, Bean LH, Freeman SB. Epidemiology Down syndrome. Ment Retard Dev Disabil Res Rev. 2007; 13(3): 221–227.
Kosasih E. Cara Bijak Memahami Anak Berkebutuhan Khusus. Bandung: Yrama Widya; 2012.
Opi A. Hubungan Polimorfisme Gen Prdm16 dengan Morfologi Panjang dan Lebar Hidung Pada Penderita Sindrom Down [Tesis]. Padang: Universitas Andalas; 2022.
Plaiasu V. Down Syndrome - Genetics and Cardiogenetics. Maedica (Bucur). 2017; 12(3): 208-213.
Antonarakis SE, Skotko BG, Rafii MS, Strydom A, Pape SE, Bianchi DW, et al. Down syndrome. Nat Rev Dis Primers. 2020; 6(1): 9.
Akhtar F, Bokhari SRA. Down Syndrome: Treasure Island: StatPearls Publishing; 2023.
Abdurrahman KMA. Penanggulangan Sindrom Down Dalam Perspektif Al-Qur'an. [disertasi]. Jakarta: Institut PTIQ Jakarta; 2021.
Marta R. Penanganan Kognitif Down Syndrome melalui Metode Puzzle pada Anak Usia Dini. Jurnal Obsesi: Jurnal Pendidikan Anak Usia Dini. 2017; 1(1): 32-41.
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