title: Temple syndrome: A patient with maternal hetero-UPD14, mixed iso- and hetero-disomy detected by SNP microarray typing of patient-father duos.
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.
authors: Department of Pediatrics, Eulji General Hospital, College of Medicine, Eulji University, Seoul, Republic of Korea.
authors: Eun-Hye
authors: EH
authors: Shin
authors: Green Cross Genome, Yongin, Republic of Korea.
authors: Eunhae
authors: E
authors: Cho
authors: Department of Pediatrics, Eulji General Hospital, College of Medicine, Eulji University, Seoul, Republic of Korea. Electronic address: leechagon@eulji.ac.kr.
authors: Cha Gon
authors: CG
authors: Lee
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000365:Age Determination by Skeleton; D001921:Brain / Q000000981:diagnostic imaging; D002675:Child, Preschool; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D005145:Face / Q000002:abnormalities; D005220:Fathers; D006228:Hand Deformities, Congenital; D006801:Humans; D008297:Male; D009035:Mothers; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods*; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D013577:Syndrome; D024182:Uniparental Disomy / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology*
keywords: Chromosome 14; Maternal; SNP microarray; Temple syndrome; Uniparental disomy; Uniparental heterodisomy