LP185988-5     Genetic counselor comment on fetal Monosomy X risk

DESCRIPTION
  Part: Genetic counselor comment on fetal Monosomy X 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 Monosomy X risk
  Description: Monosomy X risk refers to the fetus's risk of having monosomy X, also known as Turner syndrome. The risk can be estimated based on gestational age as well as prenatal genetic testing of fetal DNA.Monosomy X is caused by the presence of a single normal copy of chromosome X in each cell rather than 2 normal copies of X or one X and one Y chromosome. In many cases, critical portions of the second X chromosome may be missing rather than the entire chromosome. Turner syndrome is associated with ovarian dysfunction, short stature and other characteristic physical features, and up to half of girls with Turner syndrome have congenital heart disease. Turner syndrome is not associated with cognitive delay. The general population risk of monosomy X is about 1 in 2,500 live female births, and does not change with maternal age. [GHR: turner-syndrome]
 
 

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

LANGUAGE VARIANTS
 
  Chinese (CHINA)  (From: Lin Zhang, A LOINC volunteer from China)   SYNONYMS
  关于单体型 X 风险的遗传咨询师意见     关于单体型 X (X 单染色体症、特纳综合征、Turner 综合征、杜纳综合征、透纳氏症、透纳氏症候群、乌尔里希-特纳综合征、Ullrich–Turner 综合征、性腺发育不全、生殖腺发育不全、性腺发育障碍、性腺发育不良、性腺生殖力不全、性腺发育障碍症)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);Genetic counselor comment on Turner syndrome risk;Genetic couns
 
  Italian (ITALY)  (From: Consiglio Nazionale delle Ricerche)    
  Commento di consulente genetico su rischio Monosomia X      
 
  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 Monosomía X      
 
  Turkish (TURKEY)  (From: LOINC Turkish Translation Group and the Turkish Ministry of Health)    
  Monozomi X riski genetik danışman önerisi      

INTERNAL FIELDS
  Detail Page Created On: 6/20/2019 9:45:55 AM
  Display name: Genetic counselor comment on fetal Monosomy X risk
  Preferred Abbreviation: Gen couns comm fet Mon X risk