title: A new case of partial 14q31.3-qter trisomy due to maternal pericentric inversion.
abstract: Chromosome 14 is often involved in chromosome rearrangements, although pericentric inversions are rare. Here we report a mother carrying a pericentric inversion of chromosome 14, and her daughter with recombinant chromosome characterized by a partial distal 14q trisomy. Principal clinical findings of the child include facial anomalies, microcephaly, developmental delay, hypotonia and cardiac malformation. Her final karyotype was 46,XX,rec(14)dup(14q)inv(14)(p12q31)mat[20], arr 14q31.3qter(85,427,839-106,356,482)x3. This report brings new data about clinical features of partial 14q trisomy and molecular analysis enables the visualization of genes involved in the segment duplicated.
authors.affiliation: Department of Medical Genetics, Faculty of Medical Sciences, University of Campinas, UNICAMP, Campinas, SP, Brazil.
authors.forename: Ilária Cristina
authors.initials: IC
authors.lastname: Sgardioli
authors.forename: Milena
authors.initials: M
authors.lastname: Simioni
authors.forename: Nilma Lúcia
authors.initials: NL
authors.lastname: Viguetti-Campos
authors.forename: Joana Rosa
authors.initials: JR
authors.lastname: Prota
authors.forename: Vera Lúcia
authors.initials: VL
authors.lastname: Gil-da-Silva-Lopes
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D002871:Chromosome Banding; D007446:Chromosome Inversion; D002883:Chromosomes, Human, Pair 14; D055028:Comparative Genomic Hybridization; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D014314:Trisomy