Moleculair diagnostic criteria

  



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.

Sub topics for 'Moleculair diagnostic criteria'

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7 NIPBL
8 SMC1A
9 SMC3
10 RAD21
11 BRD4
12 HDAC8
13 ANKRD11
14 Other genes
15 Mosaicism
16 Familial recurrence risk

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Information

Information
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1 What causes CdLS?
2 The “Mild” Side of CdLS: The Families’ Perspective
3 What causes Cornelia de Lange Syndrome
4 An Update on the Genetic Causes of CdLS
5 Genetics, the cause of CdLS
6 Genetic Testing
7 We Already Have a CdLS Diagnosis...Why Follow Up With a Geneticist?
8 “Influencing” Cornelia de Lange Syndrome?
9 A Journey, Not a Destination
10 Genotype-Phenotype Correlations in Cornelia de Lange Syndrome
11 Gene Therapy
12 Different flavours of cohesin complexes
13 CdLS Foundation (USA) Position Statement on Research
14 Uitleg over de verschillende vormen van Cornelia de Lange syndroom
15 THE GENETICS OF CdLS
16 Genetic Variation within CdLS

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1 Adverse side effects of Teratogens
2 Genetics

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