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Smith-Lemli-Opitz syndrome
Inheritance patterns and prenatal diagnosis
Inheritance patterns
SLOS is inherited as an autosomal recessive condition.
Prenatal diagnosis
Prenatal testing is available through measurement of 7-dehydrocholesterol levels in tissue obtained from the pregnancy (by chorionic villus sampling or by amniocentesis). This is a specialised test that should be planned in advance. Molecular genetic (DNA) tests are available if the specific gene changes or mutations that cause the disease in an affected individual can be identified. Carriers may be identified by this method. In theory, pre-implantation genetic diagnosis may be possible for some families.
How is it treated?
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