How do you test for Cornelia de Lange syndrome?
How do you test for Cornelia de Lange syndrome? Prenatal diagnosis is available if a specific NIPBL, SMC1A, SMC3, Rad21, HDAC8, ANKRD11 or BRD4 gene mutation has been identified. Sometimes a diagnosis of CdLS may be suspected before birth (prenatally) through the use of ultrasound imaging. What is Lange syndrome? Cornelia de Lange syndrome (CdLS) […]