SNP array mapping of chromosome 20p deletions: Genotypes, phenotypes, and copy number variation

• Published in: Human mutation Vol. 30; no. 3; pp. 371 - 378
• Main Authors: Kamath, Binita M, Thiel, Brian D, Gai, Xiaowu, Conlin, Laura K, Munoz, Pedro S, Glessner, Joseph, Clark, Dinah, Warthen, Daniel M, Shaikh, Tamim H, Mihci, Ercan, Piccoli, David A, Grant, Struan F.A, Hakonarson, Hakon, Krantz, Ian D, Spinner, Nancy B
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.03.2009
• Subjects: 20p deletion; Alagille syndrome; Alagille Syndrome - genetics; Alagille Syndrome - pathology; Calcium-Binding Proteins - genetics; Chromosome Deletion; Chromosome Mapping - methods; Chromosomes, Human, Pair 20 - genetics; copy number variants; Female; Gene Dosage; Genome, Human; Genotype; haploinsufficiency; Humans; In Situ Hybridization, Fluorescence; Intercellular Signaling Peptides and Proteins - genetics; JAG1; Jagged-1 Protein; Karyotyping; Male; Membrane Proteins - genetics; Microarray Analysis - methods; Phenotype; Polymorphism, Single Nucleotide; Serrate-Jagged Proteins; SNP array analysis

The use of array technology to define chromosome deletions and duplications is bringing us closer to establishing a genotype/phenotype map of genomic copy number alterations. We studied 21 patients and five relatives with deletions of the short arm of chromosome 20 using the Illumina HumanHap550 SNP...