LP343961-1
Fetal chromosome region 15q11 deletion
Active
Description
Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are rare genetic disorders in which several genes (e.g. SNRPN, UBE3A) on chromosome 15(q11-13) are deleted or unexpressed. Alterations in the PWS/AS region (15q11-13) may occur by several genetic mechanisms, including chance mutation, uniparental disomy, sporadic mutations, chromosome translocations, and gene deletions. PWS and AS are some of the first reported instances of imprinting disorders in humans. In PWS, the maternally inherited copies of genes are virtually silent due to imprinting. Only the paternal copies of the genes are expressed. Therefore, PWS results from the loss of paternal copies of this region. Alternately, AS is caused by deletion or inactivation of genes on the maternally inherited chromosome 15 while the paternal copy, which may be of normal sequence, is imprinted and therefore silenced.
Characteristic features of PWS include diminished fetal activity, obesity, hypotonia, developmental delay, short stature, hypogonadotropic hypogonadism, strabismus, and small hands and feet. AS is characterized by intellectual and developmental disability, sleep disturbance, seizures, jerky movements (especially hand-flapping), frequent laughter or smiling, and usually a happy demeanor.
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Source: Wikipedia, Prader-Willi Syndrome (PWS) and Angleman Syndrome (AS), Genomic Imprinting
Basic Part Properties
- Part Display Name
- Fetal chromosome region 15q11 deletion
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2019-05-04
- Construct for LOINC Short Name
- Chr 15q11 del
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| pl-PL | Polish (Poland) | Delecja regionu chromosomowego 15q11 u płodu Synonyms: Delecja prążka 14 długiego ramienia chromosomu 13 |
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