title: De novo complex chromosomal rearrangements (CCR) involving chromosome 1, 5, and 6 resulting in microdeletion for 6q14 in a female carrier with psychotic disorder.
abstract: A 23-year-old obese woman with a psychotic disorder was found to have a de novo apparently balanced complex chromosomal rearrangement involving chromosomes 1, 5, and 6. Molecular cytogenetic analyses using high-resolution comparative genomic hybridization (HR-CGH) showed a microdeletion at 6q14 in a der(6). Application of HR-CGH facilitated detection of micro-rearrangement of all de novo apparently balanced complex chromosomal rearrangements (CCR) and supported the localization of the breakpoint. According to our knowledge, no constitutional interstitial microdeletion of chromosome 6q14 has been found associated with a schizoid-type phenotype.
authors.affiliation: Cytogenetic Laboratory, General Hospital, Chambéry Cedex, France. james.lespinasse@ch-chambery.rss.fr
authors.forename: James
authors.initials: J
authors.lastname: Lespinasse
authors.forename: M
authors.initials: M
authors.lastname: Bugge
authors.forename: M O
authors.initials: MO
authors.lastname: Réthoré
authors.forename: M O
authors.initials: MO
authors.lastname: North
authors.forename: C
authors.initials: C
authors.lastname: Lundsteen
authors.forename: M
authors.initials: M
authors.lastname: Kirchhoff
mesh_terms: D000328:Adult; D002869:Chromosome Aberrations; D002878:Chromosomes, Human, Pair 1; D002895:Chromosomes, Human, Pair 5; D002896:Chromosomes, Human, Pair 6; D020732:Cytogenetic Analysis; D019066:Facies; D005260:Female; D017353:Gene Deletion; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D009693:Nucleic Acid Hybridization; D009765:Obesity / Q000235:genetics; D010641:Phenotype; D011618:Psychotic Disorders / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D013997:Time Factors