chromosome 1q21.1 deletion syndrome

A chromosomal deletion syndrome that has_material_basis_in a contiguous deletion of the 1q21.1 region on chromosome 1 and is characterized by an increases the risk of delayed development, intellectual disability, physical abnormalities, and neurological and ps

A chromosomal deletion syndrome that has_material_basis_in a contiguous deletion of the 1q21.1 region on chromosome 1 and is characterized by an increases the risk of delayed development, intellectual disability, physical abnormalities, and neurological and psychiatric problems.

Signs and symptoms

• Global developmental delay
• Microcephaly
• Frontal bossing
• Intellectual disability
• Bulbous nose
• Schizophrenia
• Seizure
• Hypotonia
• Depressed nasal bridge
• Micrognathia

Also known as: 1q21.1 microdeletion syndrome