Clinical features of maternal uniparental disomy 14 in patients with an epimutation and a deletion of the imprinted DLK1/GTL2 gene cluster

Maternal uniparental disomy 14 [upd(14)mat] is associated with a recognizable phenotype that includes pre‐ and postnatal growth retardation, neonatal hypotonia, feeding problems and precocious puberty. Chromosome 14 contains an imprinted gene cluster, which is regulated by a differentially methylate...

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Veröffentlicht in:	Human mutation 2008-09, Vol.29 (9), p.1141-1146
Hauptverfasser:	Buiting, Karin, Kanber, Deniz, Martín‐Subero, José I., Lieb, Wolfgang, Terhal, Paulien, Albrecht, Beate, Purmann, Sabine, Gross, Stephanie, Lich, Christina, Siebert, Reiner, Horsthemke, Bernhard, Gillessen‐Kaesbach, Gabriele
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Child Chromosomes, Human, Pair 14 - genetics DLK1 DNA Methylation DNA Mutational Analysis Epigenesis, Genetic epimutation Female Gene Deletion Genomic Imprinting GTL2 Humans imprinting defect Intercellular Signaling Peptides and Proteins Membrane Proteins microdeletion Mothers Multigene Family Mutation Proteins RNA, Long Noncoding uniparental disomy Uniparental Disomy - genetics Uniparental Disomy - physiopathology
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