Array CGH on unstimulated blood does not detect all cases of Pallister-Killian syndrome: A skin biopsy should remain the diagnostic gold standard

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 3, 2012, Pages 669-673

  Hodge, Jennelle C ^a   Hulshizer, Rachael L ^a   Seger, Pam ^a   St Antoine, Angelique ^a   Bair, Jennifer ^a   Kirmani, Salman ^a  

^a MAYO CLINIC   (United States)

Author keywords

Array comparative genomic hybridization; Isochromosome 12p; Pallister Killian syndrome; Skin biopsy; Tetrasomy 12p; Tissue mosaicism

Indexed keywords

GENOMIC DNA;

ARTICLE; CASE REPORT; CHILD; CHROMOSOME ANALYSIS; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; DIAGNOSTIC TEST; FLUORESCENCE IN SITU HYBRIDIZATION; GENE AMPLIFICATION; GENETIC SCREENING; HUMAN; HUMAN TISSUE; ISOCHROMOSOME; LIMIT OF DETECTION; MALE; MOSAICISM; PALLISTER KILLIAN SYNDROME; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SENSITIVITY ANALYSIS; SKIN BIOPSY; TETRASOMY;

BIOPSY; BLOOD; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 12; COMPARATIVE GENOMIC HYBRIDIZATION; HUMANS; INFANT, NEWBORN; KARYOTYPING; MALE; MOSAICISM; SENSITIVITY AND SPECIFICITY; SKIN;

EID: 84857117622     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35209     Document Type: Article

References (13)

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