Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
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Drug
Enzyme
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Target Concepts:
Gene/Protein
Disease
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Query: UMLS:C0013421 (
dystonia
)
8,418
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
We report on a patient with atypical Silver-Russell phenotype comprising severe growth retardation, unusual facies, bilateral Duane anomaly and infantile
hypercalcemia
caused by maternal uniparental iso/heterodisomy (mUPD) of chromosome 7. The development of myoclonus in this patient lends further support to the hypothesis that abnormal imprinting of the SGCE gene is responsible for some cases of myoclonus-
dystonia
syndrome. This case highlights the utility of SNP microarray technology as an accessible tool for the diagnosis of mUPD7 in atypical cases. We propose that depending on the balance of iso- and heterodisomic segments in a particular patient, mUPD7 may result in a range of phenotypes not confined to classic Silver-Russell syndrome.
...
PMID:Atypical Silver-Russell phenotype resulting from maternal uniparental disomy of chromosome 7. 2068 11
