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Moleculair diagnostic criteria

        For parents, caregivers, health care providers, and teachers, concerns and questions often arise regarding the care and well-being of individuals with Cornelia de Lange Syndrome. 

The genetic causes of CdLS are complex and research to fully understand all the genetic causes is still ongoing. The genetic make-up of a child cannot be changed after conception.

The CdLS spectrum has been associated with a change (mutation) in genetic material. Usually, CdLS is caused by a change in one of seven genes. Genes are individual genetic instructions in DNA that make us who we are. The seven genes associated with CdLS are: NIPBL, SMC1A, SMC3, RAD21, BRD4, HDAC8 and ANKRD11. A change in one of these genes affects what is known as the cohesin protein complex.

 

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Moleculair diagnostic criteria

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Classic CdLS is usually caused by variants in NIPBL; however, variants in one of six other genes – SMC1A, SMC3, RAD21, BRD4, HDAC8 or ANKRD11/ – should also be considered, as they may lead to a similar phenotype.

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Overview
Cornelia de Lange Syndrome
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Deepen your knowledge of Cornelia de Lange Syndrome

We organize our answers about Cornelia de Lange Syndrome in topics. You can browse our topics below. Below each topic you might find more detailed topics with answers that might be of interest to you.

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RAD21
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SMC3
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Mosaicism
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NIPBL
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Other genes
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ANKRD11
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BRD4
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Familial recurrence risk
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SMC1A
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HDAC8