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Fig. 2 | Clinical Epigenetics

Fig. 2

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

Fig. 2

a Plots of the MLPA analysis by Coffalyser showing the 2q37 deletions found in our cohort of iPPSD3 patients. Upper panel: patient 4, with a deletion removing genes from COL6A3 to PDCD1. Lower panel: patient 3, with a deletion removing genes from HDAC4 to PDCD1. Calculated ratios are reported on the Y-axis and probes on the X-axis. Red dots highlight the heterozygous deletion (allelic loss < 0.5). b Plot of the array analysis performed in patient 4 confirming a 8.2 Mb subtelomeric terminal deletion of the long arm of the chromosome 2 (hg19 2:234,782,915—243,029,273)

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Clinical Epigenetics

ISSN: 1868-7083

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