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  3. Genetics

cas apparenté

English translation: affected relatives

08:30 Apr 7, 2009
French to English translations [PRO]
Medical - Genetics
French term or phrase: cas apparenté
As opposed to a "cas index" (index case or Patient Zero), after a genetic mutation has been identified in a patient, other family members are tested. If the same mutation is found, it is a "cas apparenté". What is this called in English?
V E P
Local time: 00:01
English translation:affected relatives
Explanation:
The Journal of Pediatrics : IRAK-4 deficiency in a family spanning ...Despite only one of the proband’s parents having heterozygous mutation of IRAK4 gene, the proband and affected relatives had homozygous IRAK4 mutation.

Alos, I think proband is used in genetics more commonly than index case, the latter being more commonly used for infectious diseases. This was my experience, but it seems to be confirmed in GDT:
proposant n. m.
Équivalent(s) English proband

Définition :
Première personne chez qui on détecte la présence d'une affection génétique, et qui sert de point de départ pour une enquête génétique sur cette affection.

Sous-entrée(s) :
forme(s) féminine(s)
proposante n. f.

synonyme(s)
propositus n. m.
proposita n. f.
probant n. m.
indicateur génétique n. m.

quasi-synonyme(s)
cas index n. m.
cas-index n. m.

Note(s) :
Même si tous les termes employés pour désigner cette notion sont donnés comme synonymes par la plupart des auteurs, il semble que le terme anglais index case soit plus usité en épidémiologie (domaine dans lequel ce terme désigne aussi le premier cas identifié d'une maladie transmissible dans un groupe de population donné) que par les médecins et les spécialistes de la génétique humaine, alors que les autres termes relèvent spécifiquement du domaine de la génétique humaine. Le terme index patient, par ailleurs, est moins fréquent que index case.

Selected response from:

Helen Genevier
France
Local time: 00:01
Grading comment
Thanks for your help. Your answer seems most apt in the particular context (and thanks for tip on proband as I had been trying to decide between "index case" and "patient zero"!
4 KudoZ points were awarded for this answer



Summary of answers provided
4 +3related case
Terry Richards
3 +1affected relatives
Helen Genevier
3inherited case
thierry niderman
3familial case
Anne-Marie Grant (X)


  

Answers


9 mins   confidence: Answerer confidence 3/5Answerer confidence 3/5
inherited case


Explanation:
relation héréditaire de la mutation

thierry niderman
Local time: 00:01
Works in field
Native speaker of: Native in FrenchFrench
Login to enter a peer comment (or grade)

49 mins   confidence: Answerer confidence 4/5Answerer confidence 4/5 peer agreement (net): +3
related case


Explanation:
This includes relations in all directions (parents, children, siblings etc.)

Terry Richards
France
Local time: 00:01
Native speaker of: Native in EnglishEnglish

Peer comments on this answer (and responses from the answerer)
agree  B D Finch
2 hrs
agree  Lionel_M (X)
2 hrs
agree  :::::::::: (X)
6 hrs
Login to enter a peer comment (or grade)

3 hrs   confidence: Answerer confidence 3/5Answerer confidence 3/5 peer agreement (net): +1
affected relatives


Explanation:
The Journal of Pediatrics : IRAK-4 deficiency in a family spanning ...Despite only one of the proband’s parents having heterozygous mutation of IRAK4 gene, the proband and affected relatives had homozygous IRAK4 mutation.

Alos, I think proband is used in genetics more commonly than index case, the latter being more commonly used for infectious diseases. This was my experience, but it seems to be confirmed in GDT:
proposant n. m.
Équivalent(s) English proband

Définition :
Première personne chez qui on détecte la présence d'une affection génétique, et qui sert de point de départ pour une enquête génétique sur cette affection.

Sous-entrée(s) :
forme(s) féminine(s)
proposante n. f.

synonyme(s)
propositus n. m.
proposita n. f.
probant n. m.
indicateur génétique n. m.

quasi-synonyme(s)
cas index n. m.
cas-index n. m.

Note(s) :
Même si tous les termes employés pour désigner cette notion sont donnés comme synonymes par la plupart des auteurs, il semble que le terme anglais index case soit plus usité en épidémiologie (domaine dans lequel ce terme désigne aussi le premier cas identifié d'une maladie transmissible dans un groupe de population donné) que par les médecins et les spécialistes de la génétique humaine, alors que les autres termes relèvent spécifiquement du domaine de la génétique humaine. Le terme index patient, par ailleurs, est moins fréquent que index case.



Helen Genevier
France
Local time: 00:01
Specializes in field
Native speaker of: Native in EnglishEnglish
PRO pts in category: 4
Grading comment
Thanks for your help. Your answer seems most apt in the particular context (and thanks for tip on proband as I had been trying to decide between "index case" and "patient zero"!

Peer comments on this answer (and responses from the answerer)
agree  SJLD: absolutely
14 mins
Login to enter a peer comment (or grade)

3 hrs   confidence: Answerer confidence 3/5Answerer confidence 3/5
familial case


Explanation:
http://www.ncbi.nlm.nih.gov/pubmed/8734291



Anne-Marie Grant (X)
Local time: 23:01
Native speaker of: English
Login to enter a peer comment (or grade)



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