1p36缺失综合症英文翻译是“1p36 deletion syndrome”。1p36缺失综合症是一种障碍,通常导致严重智力残疾。受影响最严重的个人不说话,或只讲几句话。他们可能有坏脾气,咬自己,或表现出其他行为问题。大多数有大脑的结构异常,癫痫发生在超过一半的个人障碍。影响个体通常有弱肌肉张力减退和吞咽困难(吞咽困难)。
What is 1p36 deletion 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.
Read more about chromosome 1.
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 or management of 1p36 deletion syndrome?
These resources address the diagnosis or management of 1p36 deletion syndrome and may include treatment providers.
Gene Review: 1p36 Deletion SyndromeThis link leads to a site outside Genetics Home Reference.
Genetic Testing Registry: Chromosome 1p36 deletion syndromeThis link leads to a site outside Genetics Home Reference.
You might also find information on the diagnosis or management of 1p36 deletion syndrome in Educational resources and Patient support.
General information about the diagnosis and management of genetic conditions is available in the Handbook. Read more about genetic testing, particularly the difference between clinical tests and research tests.
To locate a healthcare provider, see How can I find a genetics professional in my area? in the Handbook.
Where can I find additional information about 1p36 deletion syndrome?
You may find the following resources about 1p36 deletion syndrome helpful. These materials are written for the general public.
MedlinePlusThis link leads to a site outside Genetics Home Reference. - Health information
Genetic and Rare Diseases Information CenterThis link leads to a site outside Genetics Home Reference. - Information about genetic conditions and rare diseases
Additional NIH Resources - National Institutes of Health
National Human Genome Research Institute: Chromosome AbnormalitiesThis link leads to a site outside Genetics Home Reference.
Educational resources - Information pages (4 links)
Patient support - For patients and families (4 links)
You may also be interested in these resources, which are designed for healthcare professionals and researchers.
Gene ReviewsThis link leads to a site outside Genetics Home Reference. - Clinical summary
Genetic Testing Registry - Repository of genetic test information (1 link)
ClinicalTrials.govThis link leads to a site outside Genetics Home Reference. - Linking patients to medical research
PubMedThis link leads to a site outside Genetics Home Reference. - Recent literature
OMIMThis link leads to a site outside Genetics Home Reference. - Genetic disorder catalog
What other names do people use for 1p36 deletion syndrome?
chromosome 1p36 deletion syndrome
distal monosomy 1p36
monosomy 1p36 syndrome
For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines and How are genetic conditions and genes named? in the Handbook.
What if I still have specific questions about 1p36 deletion syndrome?
Ask the Genetic and Rare Diseases Information CenterThis link leads to a site outside Genetics Home Reference..
Where can I find general information about genetic conditions?
The Handbook provides basic information about genetics in clear language.
What does it mean if a disorder seems to run in my family?
What is a chromosome?
Can changes in the number of chromosomes affect health and development?
Are chromosomal disorders inherited?
These links provide additional genetics resources that may be useful.
Genetics and Health
Resources for Patients and Families
Resources for Health Professionals
What glossary definitions help with understanding 1p36 deletion syndrome?
chromosome ; deletion ; disability ; distal ; dysphagia ; gastrointestinal ; genitalia ; hypoplasia ; hypotonia ; inherit ; inherited ; monosomy ; muscle tone ; philtrum ; rearrangement ; reproductive cells ; sperm ; syndrome ; translocation
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.
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