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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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Overview

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

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. 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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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.