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15q24 microdeletion
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

15q24 Microdeletion

15q24 microdeletion is a rare chromosomal change involving a missing piece of chromosome 15, leading to mild to moderate intellectual disability, delayed speech, and characteristic physical features.

Overview

15q24 microdeletion is a chromosomal change in which a small piece of chromosome 15 is deleted in each cell. The deletion occurs on the long (q) arm of the chromosome at a position designated q24.

15q24 microdeletion is associated with mild to moderate intellectual disability and delayed speech development. Other common signs and symptoms include short stature, weak muscle tone (hypotonia), and skeletal abnormalities including loose (lax) joints. Affected males may have genital abnormalities, which can include an unusually small penis (micropenis) and the opening of the urethra on the underside of the penis (hypospadias). Affected individuals also have distinctive facial features such as a high front hairline, broad eyebrows, widely set eyes (hypertelorism), outside corners of the eyes that point downward (downslanting palpebral fissures), a broad nasal bridge, a full lower lip, and a long, smooth space between the upper lip and nose (philtrum).

This condition is very rare; only a few dozen affected individuals have been identified.

Other Names for This Condition

  • 15q24 deletion
  • 15q24 microdeletion syndrome
  • Interstitial deletion of chromosome 15q24

Causes & Risk Factors

People with a 15q24 microdeletion are missing between 1.7 million and 6.1 million DNA building blocks (base pairs), also written as 1.7-6.1 megabases (Mb), at position q24 on chromosome 15. The exact size of the deletion varies, but all individuals are missing the same 1.2 Mb region. This region contains several genes that are thought to be important for normal development.

The signs and symptoms that result from a 15q24 microdeletion are probably related to the loss of one or more genes in the deleted region. However, it is unclear which missing genes contribute to the specific features of the disorder.

Inheritance

The identified cases of 15q24 microdeletion have occurred in people with no history of the condition in their family. The chromosomal change likely occurs as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development.

Frequently Asked Questions

Children with 15q24 microdeletion often reach speech milestones later than peers, sometimes speaking only a few words by 18 months and forming simple sentences after 3 years. Parents can help by engaging in daily, short language sessions, using picture books, singing songs, and repeating words in context. Speech‑language therapy that focuses on expressive language, using visual supports and play‑based techniques, can accelerate progress. Consistency and positive reinforcement are key. Do children with 15q24 microdeletion need special medical evaluations for muscle tone or skeletal issues, and what should those evaluations include?::Because hypotonia and joint laxity are common, a pediatrician should order a physical therapy assessment to evaluate muscle tone, range of motion, and gait. Orthopedic evaluation may be needed if there are signs of scoliosis or limb length discrepancies. Early intervention can prevent contractures and improve functional mobility. How does the deletion affect growth, and what interventions can help with short stature or feeding difficulties?::Short stature is seen in many affected individuals. Growth hormone testing may be considered if growth velocity is below the 3rd percentile. Nutritional support, such as high‑calorie, protein‑rich foods or feeding therapy, can address feeding difficulties. Regular monitoring of growth parameters and early referral to a pediatric endocrinologist can optimize height outcomes. Is there a risk of recurrence in future pregnancies, and what genetic counseling options are available?::Most 15q24 microdeletions are de novo, but a small percentage can be inherited. Genetic counseling should include discussion of recurrence risk (generally low but not zero), options for prenatal testing (amniocentesis or chorionic villus sampling), and non‑invasive prenatal testing if the deletion is known. Couples may also consider preimplantation genetic testing for embryos.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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