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1q21.1 microdeletion syndrome
Other Names for this Disease
- 1q21.1 microdeletion
- Chromosome 1q21.1 microdeletion syndrome
- Monosomy 1q21.1
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chromosome abnormality where a segment of genetic material on the long arm (or q arm) of chromosome 1 at position 21.1 is missing (or deleted). It has been described in 46 patients to date. Some people with this deletion have no observable features; while others have variable features that can include small head, developmental delay (speech and motor delays), mild intellectual disability, distinctive facial features, and eye abnormalities. Other findings can include seizures as well as abnormalities of the heart, skeleton, and urinary system. Psychiatric and behavioral features can include autism spectrum disorders, schizophrenia, attention deficit hyperactivity disorder and sleep disorders. This syndrome is caused by a deletion in a specific region of 1q21.1, which is distinct from the deletion region that causes TAR syndrome.1q21.1 microdeletion syndrome is a newly described
Last updated: 8/8/2011
- 1q21.1 microdeletion syndrome. Orphanet. March 2011; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=250989. Accessed 8/8/2011.
- Haldeman-Englert C & Jewett T. 1q21.1 Microdeletion. GeneReviews. February 2011; http://www.ncbi.nlm.nih.gov/books/NBK52787. Accessed 8/8/2011.
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- Genetics Home Reference (GHR) contains information on 1q21.1 microdeletion syndrome. This website is maintained by the National Library of Medicine.
- Unique is a source of information and support to families and individuals affected by rare chromosome disorders. Click on the link to view information about 1q21.1 microdeletion syndrome.
In Depth Information
- The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss 1q21.1 microdeletion syndrome. Click on the link to go to OMIM and review these resources.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.