LP185771-5
Fetal Angelman syndrome risk
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Description
Angelman syndrome risk refers to the fetus's risk of having Angelman syndrome. The risk for the fetus can be derived from the general population risk as well as prenatal genetic testing of fetal DNA.Angelman syndrome is primarily caused by the functional loss of the UBE3A gene on chromosome 15. In certain areas of the brain, only the maternal copy of this gene is active due to genomic imprinting, and in Angelman syndrome, the maternal copy is missing. The genetic basis for Angelman syndrome is the inverse of the basis for Prader-Willi syndrome, in which the paternal copy of certain genes on chromosome 15 are missing. About 70% of cases are due to the deletion of a portion of the maternal chromosome 15, and another 11% are due to a mutation in the maternal copy of UBE3A. Cases may also be due to the presence of two paternal chromosome 15 copies (called uniparental disomy, meaning two copies from one parent) instead of one maternal and one paternal, chromosomal translocation, or abnormal inactivation of genes on maternal chromosome 15. In 10 to 15% of cases, the cause is unknown.
Angelman syndrome is associated with cognitive delay, seizure disorder, speech impairment, and microcephaly. Children with Angelman syndrome exhibit a happy appearance with frequent smiling, laughing, and hand-flapping, as well as hyperactivity and short attention span. The general population risk of Angelman syndrome is about 1 in 12,000 - 20,000 live births, and does not change with maternal age. [MedlinePlus Condition: angelman-syndrome]
Source: Regenstrief LOINC, GHR: Angelman syndrome
Basic Part Properties
- Part Display Name
- Fetal Angelman syndrome risk
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2014-08-15
- Construct for LOINC Short Name
- AS risk
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | 胎儿安吉尔曼综合征风险 Synonyms: 胎儿 Angelman 综合征风险（危险性、 |
| es-ES | Spanish (Spain) | Riesgo de síndrome de Angelman |
| it-IT | Italian (Italy) | Sindrome di Angelman, rischio Synonyms: Rischio di sindrome di Angelman |
| tr-TR | Turkish (Turkey) | Angelman sendrom riski |
| nl-NL | Dutch (Netherlands) | risico op Angelman-syndroom Synonyms: Angelman-syndroom risico |
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