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Disease Profile

Chromosome 15q25.2 microdeletion

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

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ICD-10

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Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

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

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]

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]

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]

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.

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

    Social Networking Websites

      Organizations Providing General Support

        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.

          References

          1. 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. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3225959/.
          2. 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.
          3. 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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