- What is 1p36 deletion syndrome and what are the symptoms and characteristics of this syndrome?
- How common is 1p36 deletion syndrome?
- What are the genetic changes related to 1p36 deletion syndrome?
- Can 1p36 deletion syndrome be inherited?
- Where can I find information about diagnosis, management, or treatment of 1p36 deletion syndrome?
- Where can I find additional information about 1p36 deletion syndrome?
- What other names do people use for 1p36 deletion syndrome?
What is 1p36 deletion syndrome and what are the symptoms and characteristics of this syndrome?
1p36 deletion syndrome is a disorder that typically causes severe intellectual disability. Most affected individuals do not speak, or speak only a few words. They may have temper tantrums, bite themselves, or exhibit other behavior problems. Most have structural abnormalities of the brain, and seizures occur in more than half of individuals with this disorder. Affected individuals usually have weak muscle tone (hypotonia) and swallowing difficulties (dysphagia).
People with 1p36 deletion syndrome have a small head that is also unusually short and wide in proportion to its size (microbrachycephaly). Affected individuals also have distinctive facial features including deep-set eyes with straight eyebrows; a sunken appearance of the middle of the face (midface hypoplasia); a broad, flat nose; a long area between the nose and mouth (philtrum); a pointed chin; and ears that are low-set, rotated backwards, and abnormally shaped.
People with 1p36 deletion syndrome may have vision or hearing problems. Some have abnormalities of the skeleton, heart, gastrointestinal system, kidneys, or genitalia.
How common is 1p36 deletion syndrome?
1p36 deletion syndrome is believed to affect between 1 in 5,000 and 1 in 10,000 newborns. However, this may be an underestimate because some affected individuals are likely never diagnosed.
What are the genetic changes related to 1p36 deletion syndrome?
1p36 deletion syndrome is caused by a deletion of genetic material from a specific region in the short (p) arm of chromosome 1. The signs and symptoms of 1p36 deletion syndrome are probably related to the loss of multiple genes in this region. The size of the deletion varies among affected individuals.
Can 1p36 deletion syndrome be inherited?
Most cases of 1p36 deletion syndrome are not inherited. They result from a chromosomal deletion that occurs as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family.
About 20 percent of people with 1p36 deletion syndrome inherit the chromosome with a deleted segment from an unaffected parent. In these cases, the parent carries a chromosomal rearrangement called a balanced translocation, in which no genetic material is gained or lost. Balanced translocations usually do not cause any health problems; however, they can become unbalanced as they are passed to the next generation. Children who inherit an unbalanced translocation can have a chromosomal rearrangement with extra or missing genetic material. Individuals with 1p36 deletion syndrome who inherit an unbalanced translocation are missing genetic material from the short arm of chromosome 1, which results in birth defects and other health problems characteristic of this disorder.
Where can I find information about diagnosis, management, or treatment of 1p36 deletion syndrome?
These resources address the diagnosis or management of 1p36 deletion syndrome and may include treatment providers.
Where can I find additional information about 1p36 deletion syndrome?
You may find the following resources about Williams syndrome helpful. These materials are written for the general public.
You may find the following resources about 1p36 deletion syndrome helpful. These materials are written for the general public.
- Health Topic: Developmental Disabilities
- Additional NIH Resources - National Institutes of Health- National Human Genome Research Institute: Chromosome Abnormalities
- Educational resources - Information pages
- Patient support - For patients and families
You may also be interested in these resources, which are designed for healthcare professionals and researchers.
- Gene Reviews - Clinical summary
- Gene Tests - DNA tests ordered by healthcare professionals
- PubMed - Recent literature
- OMIM - Genetic disorder catalog
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What other names do people use for 1p36 deletion syndrome?
- chromosome 1p36 deletion syndrome
- distal monosomy 1p36
- monosomy 1p36 syndrome
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Genetics Home Reference. 1p36 Deletion Syndrome