Chromosome 15q25.2 microdeletion

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)

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]

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.

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.