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Case Reports
. 2014 Mar 25:9:40.
doi: 10.1186/1750-1172-9-40.

Clinical phenotypes of MAGEL2 mutations and deletions

Karin Buiting, Nataliya Di Donato, Jasmin Beygo, Susanne Bens, Maja von der Hagen, Karl Hackmann, Bernhard Horsthemke  1
Affiliations
Case Reports

Clinical phenotypes of MAGEL2 mutations and deletions

Karin Buiting et al. Orphanet J Rare Dis. .
No abstract available

PubMed Disclaimer

Figures

Figure 1
Figure 1
Clinical and molecular findings in the patient. a) The patient at the age of five months and b) at 3 3/12 years. c) Pedigree of the family. The patient has the deletion on his paternal chromosome, whereas his father has the deletion on his maternal chromosome. d) Schematic overview of the chromosomal region 15q12. Blue boxes and bars, paternally expressed genes; red box, maternally expressed gene; black boxes, biparentally expressed genes; IC, imprinting center. The deletion is indicated by a black horizontal bar. Not drawn to scale. e) CGH Array results of the patient.The chromosomal localisation together with the RefSeq genes are shown in the upper part of the plot. The location of the Agilent microarray probesets is given below (green). The region highlighted in light red is deleted. The bottom part shows the gene dosage detected by the probesets (squares). Green - reduced dosage, black - normal dosage, red – increased dosage. Genomic coordinates are according to hg18. Please note that in the UCSC browser the genes NIPA1 to TUBGCP5 are in the wrong order due to flanking sequence gaps.
See this image and copyright information in PMC

References

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