title: A complex chromosome 7q rearrangement identified in a patient with mental retardation, anxiety disorder, and autistic features.
abstract: We have characterized a de novo complex rearrangement of the long arm of chromosome 7 in a female patient with moderate mental retardation (MR), anxiety disorder, and autistic features. G-banding suggested a de novo paracentric inversion 46,XX,inv(7)(q31.3q34). However, SNP-array analysis, showed a +/-10 Mb, 7q21.11-q21.3 deletion in the paternal chromosome. Subsequent FISH analysis with BAC/PAC clones in the 7q21-q35 region confirmed this deletion. However, the expected paracentric inversion turned out to be an intra-chromosomal insertion of the 7q31.31-q35 fragment into band 7q21.3, disrupting the predicted gene C7orf58 in band 7q31.31. Seven other patients have been previously reported with a deletion of 7q21.1-q21.3. Although there is an overlap in phenotype between our patient and these patients, none of them has been described with anxiety disorder and/or autistic features. Therefore we suggest that disruption of the C7orf58 gene might contribute to the anxiety disorder, and autistic features in our patient.
authors.affiliation: Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. dauw@lumc.nl
authors.forename: Johannes G
authors.initials: JG
authors.lastname: Dauwerse
authors.forename: Claudia A
authors.initials: CA
authors.lastname: Ruivenkamp
authors.forename: Kerstin
authors.initials: K
authors.lastname: Hansson
authors.forename: Godfried M
authors.initials: GM
authors.lastname: Marijnissen
authors.forename: Dorien J M
authors.initials: DJ
authors.lastname: Peters
authors.forename: Martijn H
authors.initials: MH
authors.lastname: Breuning
authors.forename: Yvonne
authors.initials: Y
authors.lastname: Hilhorst-Hofstee
mesh_terms: D000293:Adolescent; D001007:Anxiety / Q000235:genetics*; D001321:Autistic Disorder / Q000235:genetics*; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000235:genetics*; D002897:Chromosomes, Human, Pair 7; D041321:Chromosomes, Human, X; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics*; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide