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Cornelia De Lange syndrome
Inheritance patterns and prenatal diagnosis
Inheritance patterns
Although CdLS is a genetic disorder, it is rare for this condition to occur twice in the same family. At least one appointment at a genetics clinic is recommended. One gene that causes CdLS, NIPBL, has now been identified and this accounts for half of the cases.
Prenatal diagnosis
Prenatal testing of subsequent pregnancies in an affected family is possible using either genetic testing or detailed ultrasound scanning.
Psychological and behavioural characteristics
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