LP185771-5     Fetal Angelman syndrome risk

DESCRIPTION
  Part: Fetal Angelman syndrome risk
  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. [GHR: angelman-syndrome]
 
 

BASIC PART PROPERTIES
  Construct for LOINC short name: AS risk
  Type: COMPONENT
  Status: ACTIVE
  Created On: 8/15/2014

LANGUAGE VARIANTS
 
  Chinese (CHINA)  (From: Lin Zhang, A LOINC volunteer from China)   SYNONYMS
  安吉尔曼综合征风险     Angelman 综合征风险(危险性、风险性、危险);快乐木偶综合征风险;安裘曼氏症风险;天使人综合症风险;快乐木偶综合症风险
 
  Dutch (NETHERLANDS)  (From: NVKC, Dutch Society for Clinical Chemistry and Laboratory Medicine, The Netherlands)    
  Angelman-syndroom risico      
 
  Italian (ITALY)  (From: Consiglio Nazionale delle Ricerche)   SYNONYMS
  Sindrome di Angelman, rischio     Rischio di sindrome di Angelman
 
  Spanish (SPAIN)  (From: the Clinical Laboratory Committee of SERVICIO EXTREMEÑO DE SALUD, with the support of BITAC MAP.)    
  Riesgo de síndrome de Angelman      
 
  Turkish (TURKEY)  (From: LOINC Turkish Translation Group and the Turkish Ministry of Health)    
  Angelman sendrom riski      

INTERNAL FIELDS
  Detail Page Created On: 6/20/2019 9:45:34 AM
  Display name: Fetal Angelman syndrome risk
  Preferred Abbreviation: AS risk