Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure.
Surabhi MulchandaniElizabeth J BhojMinjie LuoNina Powell-HamiltonKim JennyKaren W GrippMiriam ElbrachtThomas EggermannClaire L S TurnerI Karen TempleDeborah J G MackayHolly DubbsDavid A StevensonLeah SlatteryElaine H ZackaiNancy B SpinnerIan D KrantzLaura K ConlinPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2015)
We describe the first natural history of the disorder and the results of therapeutic interventions, including the frequent requirement of direct gastric feedings only during the first few years of life, and propose that growth hormone supplementation is probably safe and effective for this condition. We suggest that UPD(20)mat can be regarded as a new imprinting disorder and its identification requires specialized molecular testing, which should be performed in patients with early-onset idiopathic isolated growth failure.Genet Med 18 4, 309-315.