Chromosome 15q25.2 microdeletion

What causes chromosome 15q25.2 microdeletion?

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.

Last updated on 05-01-20

Is chromosome 15q25.2 microdeletion inherited?

Chromosome 15q25.2 microdeletion is usually not inherited. 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. However, the symptoms and severity can vary between family members.

Last updated on 05-01-20

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.

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

Last updated on 05-01-20

Name: Chromosome Disorder Outreach CDO PO Box 724
Boca Raton, FL, 33429 , United States
Phone: +1-561-395-4252 Email: Url:
Name: Unique – Rare Chromosome Disorder Support Group G1, The Stables Station Road West
Surrey RH8 9EE
United Kingdom
Phone: +44 (0)1883 723356 Email: Url:
Name: American Association on Intellectual and Developmental Disabilities 501 3rd Street NW Suite 200
Washington, DC, 20001, United States
Phone: (202) 387-1968 Toll Free: (800) 424-3688 Fax : (202) 387-2193 Url:
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. 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. Reference Link 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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