Molecular and clinical studies in 8 patients with Temple syndrome

G. Gillessen-Kaesbach, B. Albrecht, T. Eggermann, M. Elbracht, D. Mitter, S. Morlot, C. M.A. van Ravenswaaij-Arts, S. Schulz, G. Strobl-Wildemann, K. Buiting, J. Beygo*

*Corresponding author for this work
13 Citations (Scopus)


Temple syndrome (TS14, #616222) is a rare imprinting disorder characterised by phenotypic features including pre- and postnatal growth retardation, muscular hypotonia and feeding difficulties in infancy, early puberty and short stature with small hands and feet and often truncal obesity. It is caused by maternal uniparental disomies, paternal deletions and primary imprinting defects that affect the chromosomal region 14q32 and lead to a disturbed expression of imprinted genes in this region. Here, we present detailed clinical data of 8 patients with Temple syndrome, 4 with an imprinting defect, 2 with an imprinting defect in a mosaic state as well as 1 complete and 1 segmental maternal uniparental disomy of chromosome 14.

Original languageEnglish
JournalClinical Genetics
Issue number6
Pages (from-to)1179-1188
Number of pages10
Publication statusPublished - 06.2018

Research Areas and Centers

  • Research Area: Medical Genetics


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