title: Trisomy 4 mosaicism: Delineation of the phenotype.
abstract: Trisomy 4 mosaicism in liveborns is very rare. We describe a 17-month-old girl with trisomy 4 mosaicism. Clinical findings in this patient are compared to previously reported patients. Based on the few descriptions available in the literature the common phenotype of trisomy 4 mosaicism seems to consist of IUGR, low birth weight/length/OFC, congenital heart defects, characteristic thumb anomalies (aplasia/hypoplasia), skin abnormalities (hypo-/hyperpigmentation), several dysmorphic features, and likely some degree of intellectual disability. When trisomy 4 mosaicism is suspected clinicians should be aware that a normal karyotype in lymphocytes does not exclude mosaicism for trisomy 4. This report contributes to a further delineation of the phenotype associated with trisomy 4 mosaicism.
authors.affiliation: Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.
authors.forename: Arjan
authors.initials: A
authors.lastname: Bouman
authors.affiliation: Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.
authors.forename: Anne-Marie
authors.initials: AM
authors.lastname: van der Kevie-Kersemaekers
authors.affiliation: Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.
authors.forename: Karin
authors.initials: K
authors.lastname: Huijsdens-van Amsterdam
authors.affiliation: Department of Paediatrics, Academic Medical Center, Amsterdam, The Netherlands.
authors.forename: Nordin
authors.initials: N
authors.lastname: Dahhan
authors.affiliation: Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.
authors.forename: Lia
authors.initials: L
authors.lastname: Knegt
authors.affiliation: Department of Clinical Genetics, University Medical Center Groningen, Groningen, The Netherlands.
authors.forename: Fleur
authors.initials: F
authors.lastname: Vansenne
authors.affiliation: Department of Paediatrics, Academic Medical Center, Amsterdam, The Netherlands.
authors.forename: Jan Maarten
authors.initials: JM
authors.lastname: Cobben
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D025063:Chromosome Disorders / Q000175:diagnosis / Q000235:genetics; D002894:Chromosomes, Human, Pair 4; D055028:Comparative Genomic Hybridization; D019066:Facies; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D059785:Karyotype; D009030:Mosaicism; D010641:Phenotype; D014314:Trisomy
keywords: cardiomyopathy; mosaicism; trisomy 4; trisomy 4 mosaicism