Temple syndrome: A patient with maternal hetero-UPD14, mixed iso- and hetero-disomy detected by SNP microarray typing of patient-father duos

Brain Dev. 2016 Aug;38(7):669-73. doi: 10.1016/j.braindev.2016.01.008. Epub 2016 Feb 8.

Abstract

Temple syndrome (TS, MIM 616222) is an imprinting disorder involving genes within the imprinted region of chromosome 14q32. TS is a genetically complex disorder, which is associated with maternal uniparental disomy of chromosome 14 (UPD14), paternal deletions on chromosome 14, or loss of methylation at the intergenic differentially methylated region (IG-DMR). Here, we describe the case of a patient with maternal hetero-UPD14, mixed iso-/hetero-disomy mechanism identified by a single nucleotide polymorphism (SNP) array analysis of patient-father duos study. The phenotype of our case is similarities to Prader-Willi syndrome (PWS) during infancy and to Russell-Silver syndrome (RSS) during childhood. This SNP array appears to be an effective initial screening tool for patients with nonspecific clinical features suggestive of chromosomal disorders.

Keywords: Chromosome 14; Maternal; SNP microarray; Temple syndrome; Uniparental disomy; Uniparental heterodisomy.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Age Determination by Skeleton
  • Brain / diagnostic imaging
  • Child, Preschool
  • Chromosomes, Human, Pair 14 / genetics*
  • Face / abnormalities
  • Fathers
  • Hand Deformities, Congenital
  • Humans
  • Male
  • Mothers
  • Oligonucleotide Array Sequence Analysis / methods*
  • Phenotype
  • Polymorphism, Single Nucleotide*
  • Syndrome
  • Uniparental Disomy / genetics*
  • Uniparental Disomy / pathology
  • Uniparental Disomy / physiopathology*