title: Clinical features of trisomy 12 mosaicism-Report and review.
abstract: Trisomy 12 mosaicism is a rare condition. Herein, we report a patient with mosaic trisomy 12 who was conceived by in vitro fertilization. She presented with mild dysmorphic features at birth, including down-slanting palpebral fissures, a depressed and creased nasal bridge, and mild rhizomelic shortening of the limbs. She had age-appropriate development at 6 months of age, but displayed slightly more dysmorphic features than at birth. Chromosome analysis on peripheral blood revealed a normal female karyotype in 50 metaphases. A concurrent genomic microarray analysis showed trisomy 12 in about 25% of the specimen, which was also confirmed by fluorescence in situ hybridization analysis with the CEP12 probe. Our findings further delineate the clinical features in trisomy 12 mosaicism in liveborns and demonstrate the utility of genomic microarray analysis in identification of mosaic aneuploidies.
authors.affiliation: Department of Pathology, University of Utah, Salt Lake City, Utah.|ARUP Laboratories, Salt Lake City, Utah.
authors.forename: Bo
authors.identifier: http://orcid.org/0000-0003-1004-0172
authors.initials: B
authors.lastname: Hong
authors.affiliation: Genetics Center, Indiana University School of Medicine-Northwest, Gary, Indiana.
authors.forename: Janice
authors.initials: J
authors.lastname: Zunich
authors.affiliation: ARUP Laboratories, Salt Lake City, Utah.
authors.forename: Amanda
authors.initials: A
authors.lastname: Openshaw
authors.affiliation: Department of Pathology, University of Utah, Salt Lake City, Utah.|ARUP Laboratories, Salt Lake City, Utah.|Department of Pediatrics, University of Utah, Salt Lake City, Utah.
authors.forename: Reha M
authors.initials: RM
authors.lastname: Toydemir
mesh_terms: D025063:Chromosome Disorders / Q000235:genetics* / Q000503:physiopathology; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics; D055028:Comparative Genomic Hybridization; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D009030:Mosaicism; D014314:Trisomy / Q000235:genetics* / Q000503:physiopathology
keywords: genomic microarray; mosaicism; trisomy 12