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Case Reports
. 2008 Mar 18;70(12):976-8.
doi: 10.1212/01.wnl.0000305963.37449.32.

Uniparental disomy of chromosome 1 causing concurrent Charcot-Marie-Tooth and Gaucher disease Type 3

W S Benko  1 , K S Hruska, N Nagan, O Goker-Alpan, P S Hart, R Schiffmann, E Sidransky
Affiliations
Case Reports

Uniparental disomy of chromosome 1 causing concurrent Charcot-Marie-Tooth and Gaucher disease Type 3

W S Benko et al. Neurology. .
No abstract available

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Conflict of interest statement

Disclosure: Dr. Nagan is an employee of Athena Diagnostics, Inc. All other authors report no conflicts of interest.

Figures

Figure
Figure. Genotype analysis and family pedigree
(A) Genotype analysis of the proband and his parents with chromosome 1 markers from the ABI PRISM Linkage Mapping Set, v2.5, confirms complete paternal isodisomy. In addition to homozygosity for the mutant GBA and MPZ alleles, the proband is homozygous for 23 microsatellite markers tested. Eleven of these markers, indicated by shading, are fully informative for the absence of the maternal chromosome 1 in the proband. (B) Family pedigree.
See this image and copyright information in PMC

References

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