title: Complex Rearrangement Involving Three Chromosomes, Four Breakpoints and a 2.7-Mb Deletion in the 18q Segment Observed in a Girl with Mild Learning Difficulties.
abstract: Complex chromosomal rearrangements (CCRs) are balanced or unbalanced structural rearrangements involving 3 or more cytogenetic break events on 2 or more different chromosomes. Here, we report a 7-year-old girl referred to our unit because of mild dysmorphic facial features, mild learning difficulties together with very mild mental retardation. Standard cytogenetic banding analysis revealed a de novo CCR involving chromosomes 1, 2 and 18. Further molecular investigation with aCGH revealed a cryptic interstitial deletion of 2.7 Mb in 18q22.1, which does not elicit a significant clinical phenotype. FISH was performed to confirm both molecular and cytogenetic results.
authors.affiliation: Access to Genome - ATG P.C., Laboratory of Genetics, Thessaloniki, Greece.
authors.forename: Maria
authors.initials: M
authors.lastname: Kontodiou
authors.forename: Georgios
authors.initials: G
authors.lastname: Daskalakis
authors.forename: Annalisa
authors.initials: A
authors.lastname: Vetro
authors.forename: Vassilis
authors.initials: V
authors.lastname: Paspaliaris
authors.forename: Georgios
authors.initials: G
authors.lastname: Papaioannou
authors.forename: Themistoklis
authors.initials: T
authors.lastname: Dagklis
authors.forename: Ioannis
authors.initials: I
authors.lastname: Tsakiridis
authors.forename: Monika
authors.initials: M
authors.lastname: Ziegler
authors.forename: Thomas
authors.initials: T
authors.lastname: Liehr
authors.forename: Loretta
authors.initials: L
authors.lastname: Thomaidis
authors.forename: Ioannis
authors.initials: I
authors.lastname: Papoulidis
authors.forename: Emmanouil
authors.initials: E
authors.lastname: Manolakos
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D002648:Child; D019457:Chromosome Breakage; D056905:Chromosome Breakpoints; D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D005145:Face / Q000002:abnormalities; D005192:Family Health; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability; D059785:Karyotype; D007859:Learning Disabilities / Q000235:genetics*; D008297:Male; D010375:Pedigree; D014178:Translocation, Genetic