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Autosomal recessive diseases are
genetic diseases that are passed to a child through
Each person inherits 23
chromosomes from each parent and so has 23 pairs of chromosomes. Each
genes. One or both of the chromosomes in a pair may
contain a changed (mutated) gene that could cause a genetic disease. In an
autosomal recessive disease, both chromosomes in a pair
must have a changed gene for the person to have the disease. If only one
chromosome has a changed gene, the person is a
carrier and does not have symptoms.
both parents carry the gene change, there is a:
If only one parent carries the gene change, there is a 50% chance in
each pregnancy that the child will:
If neither parent carries the gene change, the child will not have
this type of disease.
See a diagram of the
chances of passing on an autosomal recessive disease.
recessive diseases include
sickle cell disease, autosomal recessive
polycystic kidney disease (ARPKD), and
ByHealthwise StaffPrimary Medical ReviewerKathleen Romito, MD - Family MedicineSpecialist Medical ReviewerSiobhan M. Dolan, MD, MPH - Reproductive Genetics
Current as ofMarch 12, 2014
Current as of:
March 12, 2014
Kathleen Romito, MD - Family Medicine
& Siobhan M. Dolan, MD, MPH - Reproductive Genetics
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