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Incontinentia Pigmenti France - maladie rare

Heredity Print E-mail
dimanche, 03 décembre 2006

Some deceases, including IP, are due to genes placed on the X chromosome and are therefore called ‘X linked deceases’.
Women have two X chromosomes whereas men only have one (they have a Y chromosome which makes them male) A woman with IP has one normal X chromosome whereas the other one bears the mutated gene.
When pregnant, she  transmits half her genes to the foetus. That’s why each time she is pregnant her chances of transmitting the X chromosome with the mutated gene are   50% whatever the sex of the foetus. Statistically half her daughters will inherit a normal X chromosome and will therefore be free from IP and the other half will inherit the X chromosome with the mutated gene and will suffer from IP like their mother.  Half her sons will inherit a normal X chromosome and therefore be normal and the other half will inherit the X chromosome with the mutated gene. Since a foetus needs at least one normal X chromosome to survive and boys have but one X chromosome, the foetus with the mutated gene will be miscarried or stillborn.

 

schema explicatif de la mutation génétique
                
  • XX: a healthy girl
  • XX*: a girl with IP
  • XY:  a healthy boy
  • X*Y: miscarriage or stillborn baby
       
 

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  « l’Assemblée Générale Ordinaire de l’association aura lieu le samedi 24 mars de 10h à 16h . Dans les locaux de l’Alliance Maladies Rares, Hôpital Broussais 96, rue Didot – 75014 Paris .Si vous désirez davantage d’informations, vous pouvez contacter Jacques Monnet au 04 78 35 96 32 Ou Véronique Douillet au 01 40 96 97 88 »