LP185994-3     Genetic counselor comment on fetal 1p36 deletion risk

DESCRIPTION
  Part: Genetic counselor comment on fetal 1p36 deletion 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 1p36 deletion risk
  Description: 1p36 deletion syndrome is caused by the deletion of several genes in the short arm of chromosome 1 and is associated with severe cognitive delay, seizure disorder, weak muscle tone, swallowing difficulty, and distinctive facial features. The general population risk of 1p36 deletion is about 1 in 5,000 - 10,000 live births, and does not change with maternal age. Fetal risk of having 1p36 deletion syndrome can be derived from the general population risk as well as prenatal genetic testing of fetal DNA. [GHR: 1p36-deletion-syndrome]
 
 

BASIC PART PROPERTIES
  Construct for LOINC short name: Gen couns comm fet 1p36 del risk
  Type: COMPONENT
  Status: ACTIVE
  Created On: 9/26/2014

LANGUAGE VARIANTS
 
  Chinese (CHINA)  (From: Lin Zhang, A LOINC volunteer from China)   SYNONYMS
  关于 1p36 染色体缺失风险的遗传咨询师意见     关于 1p36 染色体缺失(基因缺失、缺损、基因缺损、基因删除、删除、基因丢失)(1p36 染色体缺失综合征、染色体 1p36 缺失症候群)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);1p36 染色体缺失综合征;单体型 1p36;单体性 1p36 单体;1p36;1p36 deletion syndrome;monosomy 1p36
 
  Italian (ITALY)  (From: Consiglio Nazionale delle Ricerche)    
  Commento di consulente genetico su rischio delezione 1p36      
 
  Spanish (SPAIN)  (From: the Clinical Laboratory Committee of SERVICIO EXTREMEÑO DE SALUD, with the support of BITAC MAP.)    
  Comentario de consejo genético en riesgo general de deleción 1p36      
 
  Turkish (TURKEY)  (From: LOINC Turkish Translation Group and the Turkish Ministry of Health)    
  1p36 delesyon riski genetik danışman önerisi      

INTERNAL FIELDS
  Detail Page Created On: 6/20/2019 9:45:56 AM
  Display name: Genetic counselor comment on fetal 1p36 deletion risk
  Preferred Abbreviation: Gen couns comm fet 1p36 del risk