title: Monosomy 19pter and trisomy 19q13-qter in two siblings arising from a maternal pericentric inversion: clinical data and molecular characterization.
abstract: Pericentric inversions of chromosome 19 are very rare rearrangements. Only one case was shown to have resulted in duplication deficiency in the offspring. We report a familial case of pericentric inversion of chromosome 19 not detectable by standard karyotype and usual subtelomeric FISH probes. This inversion was transmitted in its balanced and in its recombinant form to the offspring. The two children carrying the recombinant chromosome 19 presented with growth and mental retardation, microcephaly, mild facial dysmorphism and clinodactyly. The recombinant chromosome 19 was characterized by FISH and array CGH. It consisted of a 400kb 19pter deletion and a 6.9Mb (19q13.33-qter) duplication. This observation supports the recombination risk of pericentric inversion of chromosome 19 and emphasizes the role of molecular cytogenetics techniques in the characterization of chromosome 19 rearrangements.
authors.affiliation: Hospices Civils de Lyon, Service de Cytogénétique Constitutionnelle, Centre de Biologie et de Pathologie Est, Bron Cedex, France.
authors.forename: Caroline
authors.initials: C
authors.lastname: Schluth-Bolard
authors.forename: Marianne
authors.initials: M
authors.lastname: Till
authors.forename: Azim
authors.initials: A
authors.lastname: Rafat
authors.forename: Audrey
authors.initials: A
authors.lastname: Labalme
authors.forename: Marc
authors.initials: M
authors.lastname: Le Lorc'h
authors.forename: Emmanuelle
authors.initials: E
authors.lastname: Banquart
authors.forename: Christelle
authors.initials: C
authors.lastname: Angei
authors.forename: Marie-Pierre
authors.initials: MP
authors.lastname: Cordier
authors.forename: Serge-Pierrick
authors.initials: SP
authors.lastname: Romana
authors.forename: Patrick
authors.initials: P
authors.lastname: Edery
authors.forename: Damien
authors.initials: D
authors.lastname: Sanlaville
mesh_terms: D002675:Child, Preschool; D002871:Chromosome Banding; D007446:Chromosome Inversion; D002888:Chromosomes, Human, Pair 19; D005260:Female; D018392:Genomic Imprinting; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D009006:Monosomy; D009693:Nucleic Acid Hybridization; D010375:Pedigree; D035781:Siblings; D014314:Trisomy