Article
Rapid array-based genomic characterization of a subtle structural abnormality: a patient with psychosis and der(18)t(5;18)(p14.1;p11.23).
American journal of medical genetics. Part A - 30 Apr 2005
Drazinic Carolyn M, Ercan-Sencicek Adife G, Gault Laura M, Hisama Fuki M, Qumsiyeh Mazin B, Nowak Norma J, Cubells Joseph F, State Matthew W
Abstract excerpt
Array-based copy number analysis has recently emerged as a rapid means of mapping complex and/or subtle chromosomal abnormalities. We have compared two such techniques, using bacterial artificial chromosome (BAC) and single nucleotide polymorphism (SNP) arrays in the evaluation of a 45-year-old woman with dysmorphic features, mental retardation, psychosis, and an unbalanced derivative chromosome 18, (46,XX,...
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