Chromosome 15q25.2 microdeletion

Title

Other Names:

15q25.2 deletion; 15q25.2 deletion syndrome

Summary Summary

Chromosome 15q25.2 microdeletion is a chromosome abnormality that can affect many parts of the body. People with this condition are missing a small piece (deletion) of chromosome 15 at a location designated q25.2. The signs and symptoms vary but usually include mild to moderate intellectual disability and developmental delay. Some people may also have poor growth, anemia and/or physical abnormalities. Most cases are not inherited, although affected individuals can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.^[1]^[2]^[3]

Last updated: 11/5/2014

Symptoms Symptoms

The features of chromosome 15q25.2 microdeletion are not well described because it is very rare with only nine affected people reported to date. The known signs and symptoms vary from person to person, but may include:^[1]^[2]^[3]

Developmental delay
Mild to moderate intellectual disability
Poor growth
Heart defects
Congenital diaphragmatic hernia
Bone and muscle problems
Undescended testes
Limb abnormalities
Short, webbed neck
Thin upper lip
Blood abnormalities (anemia, blood clots)
Autism
Psychiatric problems (anxiety, hyperactivity, attention deficits)
Seizures
Certain types of cancer (acute myeloid leukemia, osteosarcoma)

Last updated: 11/5/2014

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Cause Cause

Chromosome 15q25.2 microdeletion often occurs sporadically as a random event when the egg or the sperm is made. There is nothing that an individual can do to cause or prevent this deletion from happening.

Most people with this deletion are missing a piece of chromosome 15 that contains 27 genes. Although many of these genes are poorly understood, it is suspected that the absence of these genes contributes to the different signs and symptoms seen with this deletion.^[2]

Last updated: 11/5/2014

Inheritance Inheritance

Chromosome 15q25.2 microdeletion is usually not inherited.^[2] The deletion often occurs sporadically as a random event during the formation of the egg or sperm. In this case, an individual would have no family history of the condition but could pass the deletion on to children.

Rarely, this deletion is passed down from parent to child.^[3] However, the symptoms and severity can vary between family members.

Last updated: 11/5/2014

Treatment Treatment

Because chromosome 15q25.2 microdeletion affects many different systems of the body, medical management is often provided by a team of doctors and other healthcare professionals. Treatment for this deletion varies because it depends on the signs and symptoms present in each person. For example, babies with congenital diaphragmatic hernia may need surgery. Children with bone or muscle abnormalities and/or delayed motor milestones (i.e. walking) may be referred for physical or occupational therapy. Speech therapy may be recommended for children with delayed speech. Certain medications may be prescribed to treat seizures. Because people with this deletion are at risk for anemia and certain types of cancer (acute myeloid leukemia, osteosarcoma), they may be screened regularly for these conditions.^[1]^[3]

Please speak to your healthcare provider if you have any questions about your personal medical management plan.

Last updated: 11/5/2014

Organizations Organizations

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

Chromosome Disorder Outreach (CDO)
PO Box 724
Boca Raton, FL 33429
Telephone: +1-561-395-4252
E-mail: https://chromodisorder.org/contact/
Website: https://chromodisorder.org/
Unique – Rare Chromosome Disorder Support Group
G1, The Stables
Station Road West
Surrey
RH8 9EE
United Kingdom
Telephone: +44 (0)1883 723356
E-mail: info@rarechromo.org
Website: https://www.rarechromo.org/

Organizations Providing General Support

American Association on Intellectual and Developmental Disabilities
501 3rd Street NW
Suite 200
Washington, DC 20001
Toll-free: (800) 424-3688
Telephone: (202) 387-1968
Fax: (202) 387-2193
Website: http://www.aaidd.org

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Learn More Learn More

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

PubMed is a searchable database of medical literature and lists journal articles that discuss Chromosome 15q25.2 microdeletion. Click on the link to view a sample search on this topic.

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References References

Wat MJ, Enciso VB, Wiszniewski W, Resnick T, Bader P, Roeder ER, Freedenberg D, Brown C, Stankiewicz P, Cheung SW, Scott DA. Recurrent microdeletions of 15q25.2 are associated with increased risk of congenital diaphragmatic hernia, cognitive deficits and possibly Diamond--Blackfan anaemia. Med Genet. November, 2010; 47(11):777-781. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3225959/.
Palumbo O, Palumbo P, Palladino T, Stallone R, Miroballo M, Piemontese MR, Zelante L, Carella M. An emerging phenotype of interstitial 15q25.2 microdeletions: clinical report and review. Am J Med Genet. December, 2012; 158A(12):3182-3189.
Doelken SC, Seeger K, Hundsdoerfer P, Weber-Ferro W, Klopocki E, Graul-Neumann L. Proximal and distal 15q25.2 microdeletions-genotype-phenotype delineation of two neurodevelopmental susceptibility loci. Am J Med Genet. January, 2013; 161A(1):218-224.

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