Fig. 2 : The phenotypes classified as Cornelia de Lange Syndrome (CdLS) can be defined as a spectrum.

Fig. 2 | The phenotypes classified as Cornelia de Lange Syndrome (CdLS) can be defined as a spectrum.
All seven identified genes that are associated with CdLS affect the cohesin complex. The CdLS spectrum includes individuals with the classic CdLS phenotype in whom the affected gene has or has not been identified (if a genetic test is unable to identify a CdLS diagnosis, this can be determined through assessment of clinical features). The spectrum also includes individuals with a non-classic CdLS phenotype who have a gene variant affecting the cohesin complex. There are also individuals who carry a gene variant involved in cohesin functioning but present little or no resemblance to the classic CdLS phenotype. These individuals do not fall within the CdLS spectrum. Note that both classic and non-classic CdLS may affect individuals mildly or severely. The question mark in the figure indicates that there may be genes causing CdLS spectrum that do not have a cohesin function; such genes are unknown at present, but they may exist and must not be excluded.

Adaptation written by: Lauren Shelley, Rachel Royston, Chris Oliver, Tonie Kline, David Fitzpatrick, Bjorn Harris, Steve Knight, Alan Peaford, Jules Harris, David Axtell, Charlie Blockley, Sara Peaford and Natalie Blockley.

Work on the adaptation was funded by a grant from Cerebra to the University of Birmingham

Source:

Diagnosis and management of Cornelia de Lange Syndrome: first international consensus statement (Adapted for easy access and wider distribution)., published on 13 dez 2018

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Modificado por Gerritjan Koekkoek em 2020/03/13 09:23

Criado por Gerritjan Koekkoek em 2019/03/27 15:09