title: Case of partial duplication 2q3 with characteristic phenotype: rare occurrence of an unbalanced offspring resulting from a parental pericentric inversion.
abstract: We report on a male infant with partial trisomy 2q (q34-->qter) resulting from a maternal pericentric inversion of chromosome 2 (p25. 2q34). The infant had clinical findings similar to the characteristic phenotype associated with a partial duplication of chromosome 2q3. Carriers of pericentric inversions of chromosome 2 have an increased risk of pregnancy loss but have only rarely been reported to have a liveborn offspring with an unbalanced chromosome constitution. This case further confirms the risks associated with a pericentric inversion of chromosome 2 and is the second report with manifestations of the trisomy 2q3 phenotype.
authors.affiliation: Child Evaluation Center, Department of Pediatrics, University of Louisville, Louisville, Kentucky 40202-3828, USA. b0angl01@ulkyvm.louisville.edu
authors.forename: B
authors.initials: B
authors.lastname: Angle
authors.forename: J H
authors.initials: JH
authors.lastname: Hersh
authors.forename: F
authors.initials: F
authors.lastname: Yen
authors.forename: K M
authors.initials: KM
authors.lastname: Christensen
mesh_terms: D000328:Adult; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D007446:Chromosome Inversion; D002889:Chromosomes, Human, Pair 2; D002658:Developmental Disabilities / Q000235:genetics; D005260:Female; D005764:Gastroesophageal Reflux / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008297:Male; D009035:Mothers; D009123:Muscle Hypotonia / Q000235:genetics; D010641:Phenotype