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1q21.1 Microdeletion Syndrome

Other Names for this Disorder

  • Chromosome 1q21.1 microdeletion syndrome

  • 1q21.1 microdeletion

  •  Monosomy 1q21.1

Co-Occurring and Similar Disorders

  • Autism Spectrum Disorders

  • anxiety

  • Mood Disorders

  • Schizophrenia

  • Attention deficit hyperactivity disorders

  • Sleep disorders

  • Thrombocytopenia-absent radius syndrome

  • Xp22.3 microdeletion syndrome

  • Thrombocytopenia

  • Langerhans cell histiocytosis

  • Histiocytosis

  • Heart disease

  • Alacrima, achalasia, and mental retardation syndrome

  • Cardiac-urogenital syndrome

  • Pseudoarthrosis


  • Small head

  • Developmental delays (speech and motor)

  • Mild intellectual disability

  • distinctive facial features

  • eye abnormalities

  • seizures

  • abnormalities of the heart, skeleton, and urinary system

  • Psychiatric and behavioral features

Linked Genes

  • 1q21.1

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This site is incomplete as I am working on adding more resources to it. If you need specific information,  Facebook message me and I will put it up as soon as I get time. 


Dawn Kohler and the DMKbooks Staff.

 Disclaimer: this is simply a collection of resources. Dawn Kohler and dmkbooks do not guarantee results from any of these resources and recommend researching these resources further before you and your caregiver proceed. Dawn is not a doctor or a lawyer. 

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