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Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published cases

2 Jun 2014

Abstract excerpt

Chromosome 14 harbours an imprinted locus at 14q32. Maternal uniparental disomy of chromosome 14, paternal deletions and loss of methylation at the intergenic differentially methylated region (IG-DMR) result in a human phenotype of low birth weight, hypotonia, early puberty and markedly short adult stature. The analysis of the world literature of 51 cases identifies the key features that will enhance diagnosis...

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Share to Epigenetics and DNA Methylation
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PMID: 24891339
DOI: 10.1136/jmedgenet-2014-102396

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