title: Mosaic tetrasomy 12p with triplication of 12p detected by array-based comparative genomic hybridization of peripheral blood DNA.
abstract: A patient whose dysmorphism at birth was not diagnostic for Pallister-Killian syndrome (PKS) was found to have mosaic tetrasomy 12p by an array-based comparative genomic hybridization of peripheral blood DNA. He was determined to be mosaic for 46,XY,trp(12)(p11.2 --> p13) in cultured skin fibroblasts. His appearance was typical for PKS at 4 months of age.
authors.affiliation: Section of Medical and Molecular Genetics, Department of Pediatrics, University of Arizona, Tucson, Arizona, USA.
authors.forename: Zöe
authors.initials: Z
authors.lastname: Powis
authors.forename: Sung-Hae L
authors.initials: SH
authors.lastname: Kang
authors.forename: M Lance
authors.initials: ML
authors.lastname: Cooper
authors.forename: Ankita
authors.initials: A
authors.lastname: Patel
authors.forename: Daniel A
authors.initials: DA
authors.lastname: Peiffer
authors.forename: Anne
authors.initials: A
authors.lastname: Hawkins
authors.forename: Randall
authors.initials: R
authors.lastname: Heidenreich
authors.forename: Kevin L
authors.initials: KL
authors.lastname: Gunderson
authors.forename: Sau W
authors.initials: SW
authors.lastname: Cheung
authors.forename: Robert P
authors.initials: RP
authors.lastname: Erickson
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D000782:Aneuploidy; D002869:Chromosome Aberrations; D025063:Chromosome Disorders / Q000235:genetics; D002881:Chromosomes, Human, Pair 12; D020732:Cytogenetic Analysis; D004247:DNA / Q000235:genetics*; D019066:Facies; D020440:Gene Duplication; D006801:Humans; D007223:Infant; D008297:Male; D009030:Mosaicism; D009693:Nucleic Acid Hybridization; D017422:Sequence Analysis, DNA
chemical_list: D004247:DNA