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16p12.2 microdeletion
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

16p12.2 microdeletion

16p12.2 microdeletion is a chromosomal change involving a small amount of genetic material on chromosome 16, leading to varied characteristics such as developmental delay, intellectual disability, and physical abnormalities, though some individuals with the deletion may show no identified health problems.

Overview

16p12.2 microdeletion is a chromosomal change in which a small amount of genetic material on chromosome 16 is . The deletion occurs on the short (p) arm of the chromosome at a location designated p12.2. Common characteristics that have been described in people with a 16p12.2 microdeletion include developmental delay, delayed speech, intellectual disability that ranges from mild to profound, weak muscle tone (hypotonia), slow growth resulting in short stature, an usually small head (microcephaly), malformations of the heart, recurrent seizures (epilepsy), and psychiatric and behavioral problems.

Less common features that can occur in people with a 16p12.2 microdeletion can include hearing loss, an opening in the lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate), dental abnormalities, malformed kidneys, and genital abnormalities in males. However, there is no particular pattern of physical abnormalities that characterizes individuals with a 16p12.2 microdeletion. Signs and symptoms related to the chromosomal change vary even among affected members of the same family, and some people with the deletion have no identified physical or behavioral abnormalities.

Frequency

Researchers estimate that about 1 in 2,000 newborns have a 16p12.2 microdeletion and show signs and symptoms of the condition. However, the actual number may be higher because many people with the microdeletion are likely never diagnosed. Some never come to medical attention because they have no related health or behavioral problems or have only mild signs and symptoms. Others have nonspecific features for which there can be many causes.

Causes & Risk Factors

People with a 16p12.2 microdeletion are missing a sequence of about 520,000 DNA building blocks (base pairs), also written as 520 kb, at position p12.2 on chromosome 16. The deleted region contains seven genes and affects one of the two copies of chromosome 16 in each cell.

The signs and symptoms that can result from a 16p12.2 microdeletion are generally related to the loss of one or more genes in this region. However, it is unclear which missing genes contribute to specific features that can occur in the disorder. Because some people with a 16p12.2 microdeletion have no obvious signs or symptoms, researchers believe that other genetic or environmental factors may also be involved. In particular, studies indicate that individuals with a 16p12.2 microdeletion who have neurological or behavioral problems often have an additional, larger chromosomal rearrangement or copy number variant on another chromosome. Small duplications of genetic material that occur near the 16p12.2 microdeletion may also contribute to the features associated with this condition.

Inheritance

16p12.2 microdeletion is inherited in an autosomal dominant pattern, which means one copy of the deleted region on chromosome 16 in each cell is sufficient to increase the risk of physical or developmental abnormalities.

In almost all known cases, individuals with a 16p12.2 microdeletion have inherited the chromosomal change from a parent, who may or may not have any related signs or symptoms. The condition is said to have incomplete penetrance because not everyone who has the altered chromosome develops related features.

Other Names for This Condition

  • 16p12.1 microdeletion
  • Chromosome 16p12.1 deletion syndrome, 520-kb

Frequently Asked Questions

Early signs can be quite varied but often include developmental delays, such as delayed speech and language milestones, or delays in motor skills like sitting or walking. Other indicators might be weak muscle tone (hypotonia), slow growth leading to short stature, or an unusually small head size (microcephaly). Behavioral or feeding difficulties can also be early clues.
The impact of a 16p12.2 microdeletion is highly variable, even among family members. Your child might experience mild learning difficulties, significant intellectual disability, or a range of physical issues like heart defects or seizures. Some individuals with the deletion have no identified health problems at all. A team of specialists will work to identify your child's specific needs and create a personalized management plan.
If you have the 16p12.2 microdeletion, there is a 50% chance that each of your children will inherit it. However, inheriting the deletion does not guarantee they will have symptoms, or that their symptoms will be the same as yours. Due to the high variability, some children may be severely affected, while others may have mild or no symptoms. Genetic counseling is highly recommended to discuss these risks and options.
Beneficial therapies are individualized based on the specific symptoms. These often include early intervention programs, speech and language therapy for communication delays, occupational therapy for daily living skills, and physical therapy for muscle tone and motor development. Educational support, behavioral therapy, and medical management for conditions like seizures or heart defects are also common components of care.
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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