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

Microduplication Xp11.22-p11.23 syndrome


Other Names:
Chromosome Xp11.23-p11.22 duplication syndrome ; Trisomy Xp11.22-p11.23; Dup(X)(p11.22p11.23); Chromosome Xp11.23-p11.22 duplication syndrome ; Trisomy Xp11.22-p11.23; Dup(X)(p11.22p11.23); Microduplication Xp11.22p11.23 syndrome; Trisomy Xp11.22p11.23 See More
Categories:
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 217377

Definition
Familial and de novo recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females.

Epidemiology
To date, twelve patients have been described.

Clinical description
All patients show moderate to severe intellectual deficit and speech delay. Seizures, early puberty and lower-extremity anomalies, including pes planus or cavus, 5th toe hypoplasia, and syndactyly, are common. A peculiar electroencephalographic (EEG) pattern characterized by rolandic-like spikes and/or continuous spike wave during slow sleep (CSWS) exists in childhood.

Etiology
The microduplication was identified by microarray-based comparative genomic hybridization (aCGH). Most affected females show preferential activation of the duplicated X chromosome. Duplications are mediated by nonallelic homologous recombination (NAHR) or Alu-mediated recombination.

Visit the Orphanet disease page for more resources.
Last updated: 2/1/2010

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.

Showing of 19 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Delayed speech and language development
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay
[ more ] 		0000750
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
30%-79% of people have these symptoms
EEG with centrotemporal focal spike waves 0012557
Hoarse voice
Hoarseness
Husky voice
[ more ] 		0001609
Nasal speech
Nasal voice
0001611
Obesity
Having too much body fat
0001513
Pes cavus
High-arched foot
0001761
Pes planus
Flat feet
Flat foot
[ more ] 		0001763
Precocious puberty
Early onset of puberty
Early puberty
[ more ] 		0000826
Seizure 0001250
Toe syndactyly
Fused toes
Webbed toes
[ more ] 		0001770
5%-29% of people have these symptoms
Autism 0000717
Percent of people who have these symptoms is not available through HPO
EEG abnormality 0002353
Generalized non-motor (absence) seizure
Brief seizures with staring spells
0002121
Intellectual disability, borderline
Mental retardation, borderline
0006889
Poor speech 0002465
Shyness 0100962
Syndactyly
Webbed fingers or toes
0001159
X-linked dominant inheritance 0001423
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Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

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.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • 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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