1q21.1 microdeletion syndrome

Common Name(s)

1q21.1 microdeletion syndrome

1q21.1 microdeletion syndrome is a newly described 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.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "1q21.1 microdeletion syndrome" for support, advocacy or research.

Unique - Understanding Chromosome Disorders

Our mission is to inform, support and alleviate the isolation of anyone affected by a rare chromosome disorder and to raise public awareness.

Last Updated: 4 Mar 2015

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Simons VIP Connect

The Simons Variation in Individuals Project (Simons VIP) is an online community and research initiative. We provide a platform to partner families and researchers to better understand over 40 genetic changes (genomic variants) associated with features related to autism and developmental delay.

Last Updated: 20 Jul 2015

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "1q21.1 microdeletion syndrome" for support, advocacy or research.

Unique - Understanding Chromosome Disorders

Our mission is to inform, support and alleviate the isolation of anyone affected by a rare chromosome disorder and to raise public awareness.

http://www.rarechromo.org

Last Updated: 4 Mar 2015

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Simons VIP Connect

The Simons Variation in Individuals Project (Simons VIP) is an online community and research initiative. We provide a platform to partner families and researchers to better understand over 40 genetic changes (genomic variants) associated with features related to autism and developmental delay.

http://www.simonsvipconnect.org

Last Updated: 20 Jul 2015

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General Resources

Little Yellow Book

A parents guide to rare chromosome disorders

Updated 4 Mar 2013

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "1q21.1 microdeletion syndrome" returned 3 free, full-text research articles on human participants. First 3 results:

[Phenotypic variability of the 1q21.1 microdeletion syndrome in members of the same family: relevance of detection of neuropsychiatric disorders for diagnosis of genetic syndromes].
 

Author(s): Daniel Natera-De Benito, Arantxa Vidal-Esteban, Jaime Sanchez-Del Pozo, Marta Moreno-Garcia, Javier Suela-Rubio, Jaime Cruz-Rojo, María José Rivero-Martin

Journal: Rev Neurol. 2015 Dec;61(12):550-6.

 

1q21.1 microdeletion syndrome is a caused by a recurrent deletion of the 1q21.1 copy-number variant, which spans 800 kb and includes at least seven genes. It is associated with a variable phenotype. Neuropsychiatric abnormalities have been previously described in many of the previously ...

Last Updated: 15 Dec 2015

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Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: a case report.
 

Author(s): Irene Bottillo, Marco Castori, Carmelilia De Bernardo, Romano Fabbri, Barbara Grammatico, Nicoletta Preziosi, Giovanna Sforzolini Scassellati, Evelina Silvestri, Antonella Spagnuolo, Luigi Laino, Paola Grammatico

Journal:

 

Thrombocytopenia-absent radius syndrome is a rare autosomal recessive disorder characterized by megakaryocytic thrombocytopenia and longitudinal limb deficiencies mostly affecting the radial ray. Most patients are compound heterozygotes for a 200 kb interstitial microdeletion in 1q21.1 ...

Last Updated: 15 Nov 2013

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Impact of array comparative genomic hybridization-derived information on genetic counseling demonstrated by prenatal diagnosis of the TAR (thrombocytopenia-absent-radius) syndrome-associated microdeletion 1q21.1.
 

Author(s): Sabine Uhrig, Dietmar Schlembach, Julie Waldispuehl-Geigl, Werner Schaffer, Jochen Geigl, Eva Klopocki, Stefan Mundlos, Michael R Speicher

Journal: Am. J. Hum. Genet.. 2007 Oct;81(4):866-8.

 

Last Updated: 11 Sep 2007

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "1q21.1 microdeletion syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.