Detection of uniparental isodisomy in autosomal recessive mitochondrial DNA depletion syndrome by high-density SNP array analysis

Journal of Human Genetics

Volumn 56, Issue 12, 2011, Pages 834-839

  Douglas, Ganka V ^a   Wiszniewska, Joanna ^a   Lipson, Mark H ^b   Witt, David R ^b   McDowell, Taryn ^b   Sifry Platt, Mara ^b   Hirano, Michio ^c   Craigen, William J ^a   Wong, Lee Jun C ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b Kaiser Permanente ^*  (United States)

^c NewYork Presbyterian Hospital   (United States)

Author keywords

apparent homozygosity; autosomal recessive; mitochondrial DNA depletion syndrome; SNP array; uniparental isodisomy

Indexed keywords

ASCORBIC ACID;

ARTICLE; CASE REPORT; CHROMOSOME 2; CHROMOSOME 22; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; DGUOK GENE; DIAGNOSTIC ACCURACY; FEMALE; GENE; GENE DOSAGE; GENETIC COUNSELING; GENETIC DISORDER; HETEROZYGOSITY LOSS; HETEROZYGOTE; HUMAN; MALE; MITOCHONDRIAL DNA DEPLETION SYNDROME; NUCLEOTIDE SEQUENCE; POINT MUTATION; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; TYMP GENE; UNIPARENTAL DISOMY;

ADULT; BASE SEQUENCE; CHROMOSOMES, HUMAN, PAIR 2; CHROMOSOMES, HUMAN, PAIR 22; COMPARATIVE GENOMIC HYBRIDIZATION; DNA, MITOCHONDRIAL; FATAL OUTCOME; FEMALE; FOLLOW-UP STUDIES; GENES, RECESSIVE; HOMOZYGOTE; HUMANS; INFANT; MALE; MITOCHONDRIAL DISEASES; MUTATION; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; SYNDROME; THYMIDINE PHOSPHORYLASE; UNIPARENTAL DISOMY; YOUNG ADULT;

EID: 84255188649     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2011.112     Document Type: Article

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