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Fig. 3 | Clinical Epigenetics

Fig. 3

From: Two maternal duplications involving the CDKN1C gene are associated with contrasting growth phenotypes

Fig. 3

Observations and predictions concerning the two duplications. Diagram summarizing the molecular and clinical phenotypes of the subjects under study. The duplicated regions are depicted separately from the chromosomes and connected to the breakpoints by blue lines. The inverted orientation of the duplications is shown. Representative imprinted genes are shown in blue if paternally expressed or in red if maternally expressed. Light colors are used to indicate repressed genes, full colors for active genes. Arrows indicate the orientation of transcription. Filled lollipops: methylated ICR2; open lollipops: non-methylated ICR2. Green rectangles: putative CDKN1C enhancers as reported in [16]. Note that in III-1 of family 2 it is likely that only one copy of CDKN1C is silent, but it is not possible to determine which is silent and which is active. Asterisk represents growth restriction was observed only in childhood

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