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 m...

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Published inBrain & development (Tokyo. 1979) Vol. 38; no. 7; pp. 669 - 673
Main Authors Shin, Eun-hye, Cho, Eunhae, Lee, Cha Gon
Format Journal Article
LanguageEnglish
Published Netherlands Elsevier B.V 01.08.2016
Subjects
Abnormalities, Multiple - genetics
Abnormalities, Multiple - pathology
Age Determination by Skeleton
Brain - diagnostic imaging
Child, Preschool
Chromosome 14
Chromosomes, Human, Pair 14 - genetics
Face - abnormalities
Fathers
Hand Deformities, Congenital
Humans
Male
Maternal
Mothers
Neurology
Oligonucleotide Array Sequence Analysis - methods
Phenotype
Polymorphism, Single Nucleotide
SNP microarray
Syndrome
Temple syndrome
Uniparental disomy
Uniparental Disomy - genetics
Uniparental Disomy - pathology
Uniparental Disomy - physiopathology
Uniparental heterodisomy
Maternal
Uniparental disomy
Chromosome 14
Temple syndrome
SNP microarray
Uniparental heterodisomy
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Summary: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.
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ISSN:0387-7604
1872-7131
DOI:10.1016/j.braindev.2016.01.008