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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Chromosome 15q25.2 microdeletion


Other Names for this Disease

  • 15q25.2 deletion
  • 15q25.2 deletion syndrome
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Treatment

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How might chromosome 15q25.2 microdeletion be treated?

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][2]

Please speak to your healthcare provider if you have any questions about your personal medical management plan.
Last updated: 11/5/2014

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. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3225959/.
  2. 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.


Other Names for this Disease
  • 15q25.2 deletion
  • 15q25.2 deletion syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.