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Don’t fight 15q13.3 microduplication syndrome alone.
Find your community on the free RareGuru App.15q13.3 microduplication syndrome is a rare chromosomal disorder. Our genetic information is organized in structures called chromosomes. People with 15q13.3 microduplication syndrome have an extra piece of genetic information on the long arm (q arm) of chromosome 15. Some people with this duplication do not have any medical or behavioral problems. Other people may have developmental delay, intellectual disability, communication difficulties, behavioral and psychiatric problems (such as autistic features, emotional instability, attention-deficit hyperactivity disorder (ADHD), schizophrenia), feeding problems, difficulty sleeping (insomnia), low muscular tone (hypotonia) and seizures. Some people with this syndrome also have cleft palate. The duplication contains the CHRNA7 gene, which is believed to cause the the behavioral abnormalities and the cleft palate.
When the duplication is inherited from a parent, it is inherited in an autosomal dominant manner. A chromosome abnormality may be suspected if a child has feeding problems, developmental delay, intellectual disability, or behavioral problems. Genetic testing using chromosomal microarray (CMA) may confirm the diagnosis. Treatment options may include physical, occupational, and speech therapies, as well as medications to treat the specific problems seen in each person.
Source: GARD Last updated on 05-01-20
The first signs of 15q13.3 microduplication syndrome may be present in infancy or early childhood. These may include not meeting developmental milestones such as sitting, standing, or walking, at the ages other children do (developmental delay). In some cases, children also have low muscle tone (hypotonia). Some children with the syndrome begin speaking later than other children (speech delay) or have trouble communicating. Infants with 15q13.3 microduplication syndrome have difficulty feeding, and children may want to eat more food than they need (overeating) as they get older.
People with 15q13.3 microduplication syndrome may have intellectual disability. In most cases, intellectual disability is mild if it is present, but some people with the syndrome have had more severe intellectual disability. People with the syndrome are more likely to have behavioral challenges including autism, attention difficulties, and schizophrenia.
Some children with 15q13.3 microduplication syndrome struggle to sleep at night (insomnia). Other health problems that may be associated with the syndrome include having multiple seizures (epilepsy). One study found that 15q13.3 microduplication syndrome may be associated with cleft lip or palate.
The problems associated with 15q13.3 microduplication syndrome can vary widely, even among members of the same family. This concept is called variable expressivity. In some cases, people who have 15q13.3 microduplication syndrome may not have any medical, developmental, or behavioral problems related to the syndrome. This concept is called reduced penetrance. Because only a small number of people with 15q13.3 microduplication syndrome have been reported, it is not known if there are other medical, developmental, or behavioral problems that may be associated with the syndrome.
Last updated on 05-01-20
15q13.3 microduplication syndrome is caused by having an extra piece of genetic information (duplication) on one of the chromosomes. Most people have 46 chromosomes in each cell of the body, and the chromosomes come in pairs. Therefore, there are two copies of chromosome 15. People with 15q13.3 microduplication syndrome have an extra copy of a small piece of chromosome 15. Specifically, this duplicated piece is on the long arm (called the q arm) of chromosome 15. The duplication is thought to contain at least six genes in most people who have the syndrome.
It is thought that changes in one of the genes in the region, called CHRNA7 , may cause an increased risk for seizures or behavioral problems. However, in general it is not known exactly why the extra genetic information on chromosome 15 can cause medical, developmental, and behavioral problems. It is also not known exactly why there can be such a wide range of problems associated with the syndrome, with some people not having any problems at all. It is possible that other genetic or environmental factors influence the problems that each person with the syndrome has.
Last updated on 05-01-20
The medical, developmental, and behavioral problems caused by 15q13.3 microduplication syndrome are very similar to problems caused by other chromosome disorders or other genetic syndromes. Therefore, when a child has a number of medical, developmental, or behavioral problems, a doctor may suspect that there could be a chromosome disorder and will first order a genetic test called a chromosomal microarray (CMA). This test looks for extra or missing pieces of chromosomes. Most people who are diagnosed with 15q13.3 microduplication syndrome had a CMA completed based on signs such as feeding problems, developmental delay, or behavioral problems.
Last updated on 05-01-20
People with 15q13.3 microduplication syndrome may have inherited the syndrome from a parent, or they may be the first in the family to have the syndrome. When the syndrome is inherited from a parent, it is inherited in an autosomal dominant manner. In some cases, the parent may have only mild medical, developmental, or behavioral problems associated with the duplication, or the parent might not have any features of the syndrome at all. When a person with 15q13.3 microduplication syndrome has children, for each child there is a:
Because the problems associated with 15q13.3 microduplication syndrome can vary, the exact medical, developmental, or behavioral problems that a child with the duplication will have is not possible to predict.
In some cases, people with 15q13.3 microduplication syndrome are the first people in their families to have the duplication, and it is not inherited from either parent. When a duplication is new in a person and is not inherited from either parent, it is called de novo.
Last updated on 05-01-20
The long-term outlook for people with 15q13.3 microduplication syndrome is generally good. Other than some medical problems that may cause feeding difficulties or seizures (epilepsy), people with the syndrome are generally healthy. Treatment options such as therapies may be helpful in allowing people with the syndrome to reach their full potentials. Based on current understanding of 15q13.3 microduplication syndrome, it is expected that people with the syndrome will have a normal lifespan.
Last updated on 05-01-20
Treatment for 15q13.3 microduplication syndrome typically includes physical, occupational, and speech therapies. Children with the syndrome may require extra help in school or other therapies to help manage behavioral challenges such as autism. These therapies may help people with the syndrome reach their full potentials.
Other treatments that may be recommended for people with 15q13.3 microduplication syndrome include antiepileptic drugs to treat seizures. Melatonin may be recommended to help children with difficulty sleeping (insomnia) sleep at night.
Last updated on 05-01-20
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