title: A complex chromosome rearrangement, der(6)ins(6)(p21.1q25.3q27)inv(6)(p25.3q27), in a child with cleidocranial dysplasia.
abstract: Complex chromosome rearrangements (CCRs) are structural abnormalities involving >2 chromosomes or >3 breakpoints. It has been suggested that the probability of imbalance increases as the number of breakpoints increase. Here we report a 7-month-old, Hispanic girl presenting with cleidocranial dysplasia (CCD) who was found to have a complex chromosome rearrangement of chromosome 6. Fluorescence in situ hybridization studies with bacterial artificial chromosome (BAC) clones showed that the rearrangement involved insertion of 6q into 6p disrupting the "Runt related transcription factor 2 (RUNX2)" gene at chromosome 6p21.1. In addition, a pericentric inversion of chromosome 6 was identified. Despite the complex nature of the rearrangement, no cryptic deletions or duplications could be detected by array comparative genomic hybridization.
authors.affiliation: Department of Pathology, University of Texas Medical Branch, Galveston, TX 78229, USA.
authors.forename: Jill K
authors.initials: JK
authors.lastname: Northup
authors.forename: Reuben
authors.initials: R
authors.lastname: Matalon
authors.forename: Lillian H
authors.initials: LH
authors.lastname: Lockhart
authors.forename: Judy C
authors.initials: JC
authors.lastname: Hawkins
authors.forename: Gopalrao V N
authors.initials: GV
authors.lastname: Velagaleti
mesh_terms: D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D002973:Cleidocranial Dysplasia / Q000175:diagnosis / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D050659:Core Binding Factor Alpha 1 Subunit / Q000235:genetics; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D010641:Phenotype
chemical_list: D050659:Core Binding Factor Alpha 1 Subunit