National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

16p13.11 microduplication syndrome


Other Names:
Dup(16)(p13.11); Trisomy 16p13.11
Categories:
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 261243

Definition
16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies.

Epidemiology
It has been clinically and molecularly characterized in fewer than 20 patients.

Clinical description
Behavioral abnormalities include attention deficit/hyperactivity disorder, aggression and disruptive temperament, and autistic spectrum disorders. Skeletal manifestations include hypermobility, craniosynostosis and polydactyly.

Etiology
This syndrome is caused by interstitial duplications encompassing 16p13.11. The size of the rearrangements is variable. The duplications were characterized by comparative genomic hybridization (CGH) microarray and fluorescence in situ hybridization (FISH). The underlying mechanism is non-allelic homologous recombination (NAHR). The microduplications appear de novo or are inherited from mildly affected or completely normal parents, suggesting that the microduplication has incomplete penetrance and variable expressivity. Two genes, NDE1 (nudE nuclear distribution gene E homolog 1) and NTAN1 (N-terminal asparagine amidase) included in the duplicated region may contribute to the neurobehavioral phenotype. As the duplication is present in phenotypically normal parents of patients, as well as in the general population, the clinical significance of the 16p13.11 microduplication is still unclear.

Visit the Orphanet disease page for more resources.
Last updated: 5/1/2011

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
30%-79% of people have these symptoms
Attention deficit hyperactivity disorder
Attention deficit
Attention deficit disorder
Attention deficit-hyperactivity disorder
Attention deficits
Childhood attention deficit/hyperactivity disorder
[ more ] 		0007018
Global developmental delay 0001263
Hand polydactyly
Extra finger
0001161
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Joint hyperflexibility
Joints move beyond expected range of motion
0005692
Language impairment 0002463
5%-29% of people have these symptoms
Aggressive behavior
Aggression
Aggressive behaviour
Aggressiveness
[ more ] 		0000718
Arachnodactyly
Long slender fingers
Spider fingers
[ more ] 		0001166
Atrial septal defect
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ] 		0001631
Autism 0000717
Coarctation of aorta
Narrowing of aorta
Narrowing of the aorta
[ more ] 		0001680
Craniosynostosis 0001363
Dolichocephaly
Long, narrow head
Tall and narrow skull
[ more ] 		0000268
Pectus excavatum
Funnel chest
0000767
Pes planus
Flat feet
Flat foot
[ more ] 		0001763
Schizophrenia 0100753
Tetralogy of Fallot 0001636
Transposition of the great arteries 0001669
Ventricular septal defect
Hole in heart wall separating two lower heart chambers
0001629
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Last updated: 7/1/2020

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Unique is a source of information and support for families and individuals affected by rare chromosome disorders. Click on the link to view information about 16p13.11 microduplication syndrome.

In-Depth Information

  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

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