18p-: Difference between revisions
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{{Use dmy dates|date=October 2023}} | {{Use dmy dates|date=October 2023}} | ||
'''18p-''' is a [[genetic disorder]] caused by the deletion of all or part of the short arm (p arm) of [[chromosome 18]]. This condition is | '''18p-''' is a [[genetic disorder]] caused by the deletion of all or part of the short arm (p arm) of [[chromosome 18]]. This condition is one of the many [[chromosomal deletion syndromes]] and can lead to a variety of developmental and physical abnormalities. | ||
==Genetics== | ==Genetics== | ||
[[File:Cebocephaly_(2).png|Cebocephaly, a possible feature of 18p-|thumb|right]] | [[File:Cebocephaly_(2).png|Cebocephaly, a possible feature of 18p-|thumb|right]] | ||
The human genome consists of 23 pairs of [[chromosomes]], each containing a long arm (q arm) and a short arm (p arm). In individuals with 18p-, there is a deletion of genetic material from the | The human genome consists of 23 pairs of [[chromosomes]], each containing a long arm (q arm) and a short arm (p arm). In individuals with 18p-, there is a deletion of genetic material from the short arm of chromosome 18. The size of the deletion can vary, and the specific genes lost in the deletion determine the severity and range of symptoms. | ||
The deletion can occur de novo, meaning it is a new mutation that | The deletion can occur de novo, meaning it is a new mutation that arises in the individual, or it can be inherited from a parent who carries a balanced [[chromosomal translocation]]. | ||
==Symptoms== | ==Symptoms== | ||
The symptoms of 18p- can | The symptoms of 18p- can vary widely among affected individuals, depending on the size and location of the deletion. Common features include: | ||
* [[Developmental delay]] and intellectual disability | * [[Developmental delay]] and [[intellectual disability]] | ||
* Distinctive facial features, such as a flat nasal bridge | * [[Hypotonia]] (low muscle tone) | ||
* Distinctive facial features, such as a flat nasal bridge and epicanthal folds | |||
* [[Hearing loss]] | * [[Hearing loss]] | ||
* [[Growth retardation]] | * [[Growth retardation]] | ||
* [[ | * [[Cebocephaly]], a rare craniofacial anomaly | ||
==Diagnosis== | ==Diagnosis== | ||
Diagnosis of 18p- is typically made through genetic testing | Diagnosis of 18p- is typically made through [[genetic testing]], such as [[karyotyping]] or [[chromosomal microarray analysis]]. These tests can identify the deletion on chromosome 18 and help determine its size and the specific genes involved. | ||
==Management== | ==Management== | ||
There is no cure for 18p-, but management | There is no cure for 18p-, but management focuses on addressing the symptoms and improving quality of life. This may include: | ||
* Early intervention programs to address developmental delays | * [[Early intervention]] programs to address developmental delays | ||
* | * [[Speech therapy]], [[occupational therapy]], and [[physical therapy]] | ||
* Regular monitoring of growth and development | |||
* Regular monitoring and | * Hearing assessments and interventions if necessary | ||
==Prognosis== | ==Prognosis== | ||
The prognosis for individuals with 18p- varies depending on the | The prognosis for individuals with 18p- varies depending on the severity of the symptoms and the presence of any associated health issues. With appropriate support and interventions, many individuals can lead fulfilling lives. | ||
==Related pages== | ==Related pages== | ||
Latest revision as of 20:54, 5 March 2025
Genetic disorder involving deletion of part of chromosome 18
18p- is a genetic disorder caused by the deletion of all or part of the short arm (p arm) of chromosome 18. This condition is one of the many chromosomal deletion syndromes and can lead to a variety of developmental and physical abnormalities.
Genetics[edit]
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The human genome consists of 23 pairs of chromosomes, each containing a long arm (q arm) and a short arm (p arm). In individuals with 18p-, there is a deletion of genetic material from the short arm of chromosome 18. The size of the deletion can vary, and the specific genes lost in the deletion determine the severity and range of symptoms.
The deletion can occur de novo, meaning it is a new mutation that arises in the individual, or it can be inherited from a parent who carries a balanced chromosomal translocation.
Symptoms[edit]
The symptoms of 18p- can vary widely among affected individuals, depending on the size and location of the deletion. Common features include:
- Developmental delay and intellectual disability
- Hypotonia (low muscle tone)
- Distinctive facial features, such as a flat nasal bridge and epicanthal folds
- Hearing loss
- Growth retardation
- Cebocephaly, a rare craniofacial anomaly
Diagnosis[edit]
Diagnosis of 18p- is typically made through genetic testing, such as karyotyping or chromosomal microarray analysis. These tests can identify the deletion on chromosome 18 and help determine its size and the specific genes involved.
Management[edit]
There is no cure for 18p-, but management focuses on addressing the symptoms and improving quality of life. This may include:
- Early intervention programs to address developmental delays
- Speech therapy, occupational therapy, and physical therapy
- Regular monitoring of growth and development
- Hearing assessments and interventions if necessary
Prognosis[edit]
The prognosis for individuals with 18p- varies depending on the severity of the symptoms and the presence of any associated health issues. With appropriate support and interventions, many individuals can lead fulfilling lives.
