• Microduplication Xp11.22-P11.23 Syndrome

Disease at a Glance

Summary
Familial and de novo recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females.
Resource(s) for Medical Professionals and Scientists on This Disease:
  • RareSource offers rare disease gene variant annotations and links to rare disease gene literature.

About Microduplication Xp11.22-p11.23 syndrome

Many rare diseases have limited information. Currently GARD aims to provide the following information for this disease:

  • Population Estimate:Fewer than 1,000 people in the U.S. have this disease.
  • Symptoms:May start to appear as a Newborn and as an Infant.
  • Cause:This is caused by changes in the way information is arranged into chromosomes.
  • Organizations:GARD is not currently aware of organizations specific to this condition.
  • Categories:Birth DefectNeurological DiseaseGenetic Disease
When Do Symptoms of Microduplication Xp11.22-p11.23 syndrome Begin?
Symptoms of this disease may start to appear as a Newborn and as an Infant.

The age symptoms may begin to appear differs between diseases. Symptoms may begin in a single age range, or during several age ranges. The symptoms from some diseases may begin at any age. Knowing when symptoms began to appear can help medical providers find the correct diagnosis.
Prenatal
Before Birth
Newborn Selected
Birth-4 weeks
Infant Selected
1-23 months
Child
2-11 years
Adolescent
12-18 years
Adult
19-65 years
Older Adult
65+ years
Symptoms may start to appear as a Newborn and as an Infant.
This information comes from Orphanet

Symptoms

The number and severity of symptoms experienced may differ among people with this disease. Your experience may be different from others, and you should consult your primary care provider for more information.

This list is not all-inclusive, but the following symptoms have been linked to this disease:
Nervous System Nervous System

11 Symptoms

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List View
Tile View
List View

Nervous System

The nervous system is made up of the brain, spinal cord, and nerves. Common symptoms of problems in the nervous system include trouble moving, speaking, swallowing, breathing, or learning. Problems with memory, senses, or mood may also occur. Nervous system diseases are usually diagnosed and treated by neurologists.
Medical Term

Delayed speech and language development

Frequency
Uncommon
Very frequent
Very frequent
Always
Description

A degree of language development that is significantly below the norm for a child of a specified age.

A degree of language development that is significantly below the norm for a child of a specified age.

Synonym

Deficiency of speech development; Delayed language development; Delayed speech; Delayed speech acquisition; Delayed speech and language development; 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

Deficiency of speech development; Delayed language development; Delayed speech; Delayed speech acquisition; Delayed speech and language development; 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

11 Symptoms
This information comes from the Human Phenotype Ontology (HPO)

Causes

Chromosome Disorder

Microduplication Xp11.22-p11.23 syndrome is a chromosome disorder, which means it is caused by changes in the way information is arranged into chromosomes.

What Is a Chromosome?

Chromosomes are thread-like structures found inside the nucleus of human cells. Each chromosome is made of DNA, and DNA is passed from parents to their children.

Humans usually have 46 chromosomes. The first 22 pairs of chromosomes, called autosomes, are found in males and females. The 23rd pair comprises the sex chromosomes. Each parent passes on 22 autosomes and one sex chromosome to their offspring.

The cells in our bodies must constantly divide and produce new cells. Chromosomes play a key role in making sure DNA is copied and passed along during cell division. However, on rare occasions, mistakes do occur. These mistakes can lead to chromosome disorders.

Sources to Learn More: Chromosome Abnormalities Fact Sheet (NHGRI)

Chromosomes are thread-like structures found inside the nucleus of human cells. Each chromosome is made of DNA, and DNA is passed from parents to their children.

Humans usually have 46 chromosomes. The first 22 pairs of chromosomes, called autosomes, are found in males and females. The 23rd pair comprises the sex chromosomes. Each parent passes on 22 autosomes and one sex chromosome to their offspring.

The cells in our bodies must constantly divide and produce new cells. Chromosomes play a key role in making sure DNA is copied and passed along during cell division. However, on rare occasions, mistakes do occur. These mistakes can lead to chromosome disorders.

Sources to Learn More: Chromosome Abnormalities Fact Sheet (NHGRI)

Read More
Inheritance

All individuals inherit two copies of most genes. The number of copies of a gene that need to have a disease-causing variant affects the way a disease is inherited. This disease is inherited in the following pattern(s):

X-Linked Dominant Inheritance

X-linked means the gene is located on the X chromosome, one of two sex chromosomes. Genes, like chromosomes, usually come in pairs. Dominant means that when there are two copies of the responsible gene, only one copy must have a disease-causing change (pathogenic variant) in order for a person to have the disease. Mutation is an older term that is still sometimes used to mean pathogenic variant.

Because women have two X chromosomes, a pathogenic variant for an X-lined dominant disease needs to occur in only one copy of the gene to cause the disease. Because men have one X chromosome and thus only one copy of the gene, a pathogenic variant in their one copy is enough to cause the disease. Women may experience less severe symptoms than men.

A woman who carries one X-linked gene variant has a 50% (1 in 2) chance of having a son or daughter with the disease. A man with an X-linked dominant disease cannot pass on the disease to his sons, but all of his daughters will have the disease. If a child is the first person in a family with the disease, the pathogenic variant may have occurred by chance for the first time in the child (de novo).X-linked means the gene is located on the X chromosome, one of two sex chromosomes. Genes, like chromosomes, usually come in pairs. Dominant means that when there are two copies of the responsible gene, only one copy must have a disease-causing change (pathogenic variant) in order for a person to have the disease. Mutation is an older term that is still sometimes used to mean pathogenic variant.

Because women have two X chromosomes, a pathogenic variant for an X-lined dominant disease needs to occur in only one copy of the gene to cause the disease. Because men have one X chromosome and thus only one copy of the gene, a pathogenic variant in their one copy is enough to cause the disease. Women may experience less severe symptoms than men.

A woman who carries one X-linked gene variant has a 50% (1 in 2) chance of having a son or daughter with the disease. A man with an X-linked dominant disease cannot pass on the disease to his sons, but all of his daughters will have the disease. If a child is the first person in a family with the disease, the pathogenic variant may have occurred by chance for the first time in the child (de novo).
Read More

Advocacy and Support Groups

How Can Patient Organizations Help?

Patient organizations can help patients and families connect. They build public awareness of the disease and are a driving force behind research to improve patients' lives. They may offer online and in-person resources to help people live well with their disease. Many collaborate with medical experts and researchers.

Services of patient organizations differ, but may include:

  • Ways to connect to others and share personal stories
  • Easy-to-read information
  • Up-to-date treatment and research information
  • Patient registries
  • Lists of specialists or specialty centers
  • Financial aid and travel resources

Please note: GARD provides organizations for informational purposes only and not as an endorsement of their services. Please contact an organization directly if you have questions about the information or resources it provides.

Patient Organizations

4 Organizations

Organization Name

Who They Serve

Helpful Links

Country

EveryLife Foundation for Rare Diseases
People With

Rare Diseases

Helpful Links
Country

United States

Genetic Alliance
People With

Rare Diseases

Helpful Links
Country

United States

Global Genes
People With

Rare Diseases

Helpful Links
Country

United States

National Organization for Rare Disorders
People With

Rare Diseases

Helpful Links
Country

United States

Participating in Clinical Studies

Clinical studies are part of clinical research and at the heart of all medical advances, including rare diseases. Participating in research helps researchers ultimately uncover better ways to treat, prevent, diagnose, and understand human diseases.

What Are Clinical Studies?

Clinical studies are medical research involving people as participants. There are two main types of clinical studies:

  1. Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments.
  2. Observational studies involve recording changes over time among a specific group of people in their natural settings.
Learn more about the different types of clinical studies, consent forms, questions you should ask before participating in clinical studies, and the difference between research and medical treatment.

Why Participate in Clinical Studies?

People participate in clinical trials for a variety of reasons. Participants with a disease may participate to help others, but also to possibly receive the newest treatment and additional care from clinical study staff. Healthy volunteers may also participate to help others and to contribute to moving science forward.

How Do You Find the Right Clinical Study?

To find the right clinical study we recommend you:

  • Use ClincalTrials.gov button below to search for studies by disease, terms, or country.
  • Consult doctors, other trusted medical professionals, and patient organizations.
  • Enroll in databases to allow researchers from participating institutions to find you.

What if There Are No Available Clinical Studies?

ResearchMatch helps connect people interested in research studies with researchers from top medical centers across the United States. Anyone from the U.S. can register with this free program funded by NIH. Researchers from participating institutions use the database to search for and invite patients or healthy volunteers who meet their study criteria to participate.

What Are Clinical Studies?

Clinical studies are medical research involving people as participants. There are two main types of clinical studies:

  1. Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments.
  2. Observational studies involve recording changes over time among a specific group of people in their natural settings.
Learn more about the different types of clinical studies, consent forms, questions you should ask before participating in clinical studies, and the difference between research and medical treatment.

Why Participate in Clinical Studies?

People participate in clinical trials for a variety of reasons. Participants with a disease may participate to help others, but also to possibly receive the newest treatment and additional care from clinical study staff. Healthy volunteers may also participate to help others and to contribute to moving science forward.

How Do You Find the Right Clinical Study?

To find the right clinical study we recommend you:

  • Use ClincalTrials.gov button below to search for studies by disease, terms, or country.
  • Consult doctors, other trusted medical professionals, and patient organizations.
  • Enroll in databases to allow researchers from participating institutions to find you.

What if There Are No Available Clinical Studies?

ResearchMatch helps connect people interested in research studies with researchers from top medical centers across the United States. Anyone from the U.S. can register with this free program funded by NIH. Researchers from participating institutions use the database to search for and invite patients or healthy volunteers who meet their study criteria to participate.

ClinicalTrials.gov, an affiliate of NIH, provides current information on clinical research studies in the United States and abroad. Talk to a trusted doctor before choosing to participate in any clinical study. We recommend checking this site often and searching for studies with related terms/synonyms to improve results.
Please contact GARD if you need help finding additional information or resources on rare diseases, including clinical studies. Our Information Specialists are available to you by phone or by filling out our contact form. Note, GARD cannot enroll individuals in clinical studies.
ClinicalTrials.gov, an affiliate of NIH, provides current information on clinical research studies in the United States and abroad. Talk to a trusted doctor before choosing to participate in any clinical study. We recommend checking this site often and searching for studies with related terms/synonyms to improve results.
Please contact GARD if you need help finding additional information or resources on rare diseases, including clinical studies. Our Information Specialists are available to you by phone or by filling out our contact form. Note, GARD cannot enroll individuals in clinical studies.

Learn about symptoms, cause, support, and research for a rare disease. 

Take steps toward getting a diagnosis by working with your doctor, finding the right specialists, and coordinating medical care.

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Take steps toward getting a diagnosis by working with your doctor, finding the right specialists, and coordinating medical care.

Last Updated: February 2023