1q21.1 microduplication syndrome
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 October 2023.
Newly diagnosed with
1q21.1 microduplication syndrome?
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Advocacy Organizations
Rare Chromosome Disorder Support Group – Unique
To inform, support and alleviate the isolation of anyone affected by a rare chromosome or single gene disorder and to raise public awareness.
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