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Last Updated: 8 August 2024

Tetrasomy 18p

Tetrasomy 18p is a rare chromosomal disorder characterised by the presence of an extra isochromosome 18p. Affected individuals often present developmental delays, intellectual disabilities, and craniofacial anomalies. Tetrasomy 18p may be diagnosed via prenatal screening or postnatal genetic testing. Management focuses on symptomatic treatment and early intervention programs.

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