Skip to main content
Fig. 1 | Clinical Epigenetics

Fig. 1

From: Association of GNAS imprinting defects and deletions of chromosome 2 in two patients: clues explaining phenotypic heterogeneity in pseudohypoparathyroidism type 1B/iPPSD3

Fig. 1

Representative plots of the MS-MLPA analysis by Coffalyser showing the LoI at the GNAS locus in iPPSD3 patients. Left panel: copy number analysis—data show a normal bialleleic status of the STX16 and GNAS regions, which means the absebce of any no structural defect (in particular no deletions). Right panel: methylation analysis—data show a broad loss of imprinting at the GNAS locus. Calculated ratios are reported on the Y-axis and probes on the X-axis. Red dots highlight the LoM (meth ratio < 0.5) and blue dots the GoM (meth ratio > 0.5)

Back to article page

Clinical Epigenetics

ISSN: 1868-7083

Contact us