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*

*Korrespondierende/r Autor/-in für diese Arbeit
13 Zitate (Scopus)

Abstract

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.

OriginalspracheEnglisch
ZeitschriftClinical Genetics
Jahrgang93
Ausgabenummer6
Seiten (von - bis)1179-1188
Seitenumfang10
ISSN0009-9163
DOIs
PublikationsstatusVeröffentlicht - 06.2018

Strategische Forschungsbereiche und Zentren

  • Querschnittsbereich: Medizinische Genetik

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