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Term Definition

(1) A healthy person who has one normal and one altered form of the same gene - called a heterozygote.

(2) An individual with a structural rearrangement of the chromosomes, causing no effect on their own health or lifespan (called a balanced translocation carrier), but increasing the risk of infertility, miscarriages, stillbirths and children with multiple congenital malformations, growth retardation & learning disabilities.

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