Regions of homozygosity identified by SNP microarray analysis aid in the diagnosis of autosomal recessive disease and incidentally detect parental blood relationships

Genetics in Medicine

Volumn 15, Issue 1, 2013, Pages 70-78

  Sund, Kristen Lipscomb ^a   Zimmerman, Sarah L ^a   Thomas, Cameron ^a   Mitchell, Anna L ^b   Prada, Carlos E ^a   Grote, Lauren ^a   Bao, Liming ^a   Martin, Lisa J ^a   Smolarek, Teresa A ^a  

^a CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^b UNIVERSITY HOSPITALS OF CLEVELAND   (United States)

Author keywords

consanguinity; heterozygosity; homozygosity; incest; microarray

Indexed keywords

AUTOSOMAL RECESSIVE DISORDER; AUTOSOME; CLINICAL ARTICLE; CONSANGUINITY; CYTOGENETICS; FEMALE; FIRST DEGREE RELATIVE; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; HOMOZYGOSITY; HUMAN; HUMAN CELL; MALE; MEDICAL RECORD REVIEW; PARENT; REVIEW; SIBLING; SINGLE NUCLEOTIDE POLYMORPHISM; X CHROMOSOME;

CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, X; CONSANGUINITY; FEMALE; GENES, RECESSIVE; GENETIC DISEASES, INBORN; HOMOZYGOTE; HUMANS; MALE; MEDICAL RECORDS; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; SIBLINGS;

EID: 84872071317     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2012.94     Document Type: Review

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