1q21.1 microduplication syndrome

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Synonyms: Dup(1)(q21.1) | Trisomy 1q21.1

1q21.1 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy with incomplete penetrance and variable expression characterized by macrocephaly developmental delay intellectual disability psychiatric disturbances (autism spectrum disorder attention deficit hyperactivity disorder schizophrenia mood disorders) and mild facial dysmorphism (high forehead hypertelorism). Other associated features include congenital heart defects hypotonia short stature scoliosis.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version July 2024

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1q21.1 microduplication syndrome?

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