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.
order Titel Delete 7 NIPBL 8 SMC1A 9 SMC3 10 RAD21 11 BRD4 12 HDAC8 13 ANKRD11 14 Other genes 15 Mosaicism 16 Familial recurrence risk order Titel Delete 6 R4 # Titel Delete 1 Adverse side effects of Teratogens 2 Genetics # Titel Delete Titel Delete $lineArray[0]
