Chromosome 1, Trisomy 1q42-qter


Type of disease: Rare conditions

Trisomy 1q42-qter is a rare genetic condition. This condition results from a mutation or error in a person’s DNA or genes. This can cause birth defects such as macrocephaly, prominent forehead, or large fontanelle (soft spot on an infants head), as well as slow growth and intellectual disability. Although there is currently no cure for trisomy 1q42-qter, there are various resources to help manage the condition and treat birth defects. Doctors seek help from various therapists and community services to provide support and care for families affected by trisomy 1q42-qter.

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