Chromosome 1q21.1 deletion syndrome

Your Results

Sign In

Description

The 1q21.1 recurrent microdeletion itself does not appear to lead to a clinically recognizable syndrome as some persons with the deletion have no obvious clinical findings and others have variable findings that most commonly include microcephaly (50%), mild intellectual disability (30%), mildly dysmorphic facial features, and eye abnormalities (26%). Other findings can include cardiac defects, genitourinary anomalies, skeletal malformations, and seizures (~15%). Psychiatric and behavioral abnormalities can include autism spectrum disorders, attention deficit hyperactivity disorder, autistic features, and sleep disturbances.

GeneReviews

  • Mode of Inheritance

  • Autosomal dominant inheritance
  • Sporadic

External Links

© 2024 Biocodify. All rights reserved.

Stay up to date

The latest news and updates from Biocodify, sent to your inbox.