LP185991-9     Genetic counselor comment on fetal Angelman syndrome risk

  Part: Genetic counselor comment on fetal Angelman syndrome risk
  Description: The genetic counselor's comment regarding risk of a specific disorder or group of disorders is used to convey follow-up recommendations or other information related to the risk result and interpretation.
  Part: Genetic counselor comment on 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]

  Construct for LOINC short name: Gen couns comm fet AS risk
  Status: ACTIVE
  Created On: 9/26/2014

  Chinese (CHINA)  (From: Lin Zhang, A LOINC volunteer from China)   SYNONYMS
  关于安吉尔曼综合征风险的遗传咨询师意见     关于安吉尔曼综合征(Angelman 综合征、快乐木偶综合征、安裘曼氏症、天使人综合症、快乐木偶综合症)风险(危险性、风险性、危险)的遗传咨询师(遗传病辅导员、基因咨询师、遗传谘询师、基因谘询师)意见(评论、解释、注释、注解、点评)
  Italian (ITALY)  (From: Consiglio Nazionale delle Ricerche)    
  Commento di consulente genetico su rischio sindrome di Angelman      
  Spanish (SPAIN)  (From: the Clinical Laboratory Committee of SERVICIO EXTREMEÑO DE SALUD, with the support of BITAC MAP.)    
  Comentario de consejo genético en riesgo de síndrome de Angelman      
  Turkish (TURKEY)  (From: LOINC Turkish Translation Group and the Turkish Ministry of Health)    
  Angelman sendromu riski genetik danışman önerisi      

  Detail Page Created On: 6/20/2019 9:45:56 AM
  Display name: Genetic counselor comment on fetal Angelman syndrome risk
  Preferred Abbreviation: Gen couns comm fet AS risk