Informacje

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.

Zalecenie(a)

Moleculair diagnostic criteria

R4
Klasyczny CdLS jest zwykle powodowany przez zmiany (mutacje) w NIPBL; jednakże zmiany w jednym z sześciu innych genów - SMC1A, SMC3, RAD21, BRD4, HDAC8 lub ANKRD11 - powinny być również brane pod uwagę, ponieważ mogą prowadzić do podobnego fenotypu.


                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                         

Znajdź inne strony, które mają ten sam temat co ta strona CdLS Spectrum Clinical Criteria (scoring)7

                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                


  

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