Concurrent diagnoses of Prader-Willi syndrome and GM2 gangliosidosis caused by uniparental disomy of chromosome 15

Am J Med Genet A. 2015 Aug;167A(8):1944-8. doi: 10.1002/ajmg.a.37090. Epub 2015 Apr 21.

Authors

Debra S Regier¹, Eyby Leon², Debra R Counts³, Cynthia J Tifft¹, Dina J Zand²

Affiliations

¹ National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
² Division of Genetics and Metabolism, Children's National Medical Center, Washington, DC.
³ Department of Pediatrics, University of Maryland Medical Center, Baltimore, Maryland.

PMID: 25900722
DOI: 10.1002/ajmg.a.37090

No abstract available

Publication types

Case Reports

MeSH terms

Chromosomes, Human, Pair 15*
Female
Gangliosidoses, GM2 / diagnosis*
Gangliosidoses, GM2 / genetics
Humans
Male
Prader-Willi Syndrome / diagnosis*
Prader-Willi Syndrome / genetics
Uniparental Disomy*