Utility of SNP arrays in detecting, quantifying, and determining meiotic origin of tetrasomy 12p in blood from individuals with Pallister-Killian syndrome

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 12, 2012, Pages 3046-3053

  Conlin, Laura K ^a   Kaur, Maninder ^a   Izumi, Kosuke ^a   Campbell, Lindsey ^a   Wilkens, Alisha ^a   Clark, Dinah ^a   Deardorff, Matthew A ^a,b   Zackai, Elaine H ^a,b   Pallister, Phillip ^c   Hakonarson, Hakon ^a,b   Spinner, Nancy B ^a,b   Krantz, Ian D ^a,b  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

^c Shodair Hospital   (United States)

Author keywords

Isochromosome 12p (i(12p)); Mosaicism; Pallister Killian syndrome (PKS); SNP array; Teschler Nicola Killian syndrome; Tetrasomy 12p

Indexed keywords

AGE; ARTICLE; BLOOD; CHILD; CHROMOSOME 12P; CHROMOSOME MOSAICISM; CLINICAL ARTICLE; COHORT ANALYSIS; CYTOGENETICS; FEMALE; FETUS; FIBROBLAST; GENOTYPE; HUMAN; HUMAN CELL; HUMAN TISSUE; INFANT; ISOCHROMOSOME; MALE; MEIOSIS; PALLISTER KILLIAN SYNDROME; PRESCHOOL CHILD; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN BIOPSY; TETRASOMY; TISSUES;

EID: 84870239574     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35726     Document Type: Article

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