title: Characterization of a complex chromosomal rearrangement using chromosome, FISH, and microarray assays in a girl with multiple congenital abnormalities and developmental delay.
abstract: Complex chromosomal rearrangements (CCRs) are balanced or unbalanced structural rearrangements involving three or more cytogenetic breakpoints on two or more chromosomal pairs. The phenotypic anomalies in such cases are attributed to gene disruption, superimposed cryptic imbalances in the genome, and/or position effects. We report a 14-year-old girl who presented with multiple congenital anomalies and developmental delay. Chromosome and FISH analysis indicated a highly complex chromosomal rearrangement involving three chromosomes (3, 7 and 12), seven breakpoints as a result of one inversion, two insertions, and two translocations forming three derivative chromosomes. Additionally, chromosomal microarray study (CMA) revealed two submicroscopic deletions at 3p12.3 (467 kb) and 12q13.12 (442 kb). We postulate that microdeletion within the ROBO1 gene at 3p12.3 may have played a role in the patient's developmental delay, since it has potential activity-dependent role in neurons. Additionally, factors other than genomic deletions such as loss of function or position effects may also contribute to the abnormal phenotype in our patient.
authors.affiliation: Cytogenetics Department, Quest Diagnostics Nichols Institute, 33608 Ortega Hwy, San Juan Capistrano, California 92675, USA.
authors.forename: Morteza
authors.initials: M
authors.lastname: Hemmat
authors.affiliation: Cytogenetics Department, Quest Diagnostics Nichols Institute, 33608 Ortega Hwy, San Juan Capistrano, California 92675, USA.
authors.forename: Xiaojing
authors.initials: X
authors.lastname: Yang
authors.affiliation: Cytogenetics Department, Quest Diagnostics Nichols Institute, 33608 Ortega Hwy, San Juan Capistrano, California 92675, USA.
authors.forename: Patricia
authors.initials: P
authors.lastname: Chan
authors.affiliation: Cytogenetics Department, Quest Diagnostics Nichols Institute, 33608 Ortega Hwy, San Juan Capistrano, California 92675, USA.
authors.forename: Robert A
authors.initials: RA
authors.lastname: McGough
authors.affiliation: Quest Diagnostics, 695 South Broadway, Denver, Colorado 80209, USA.
authors.forename: Leslie
authors.initials: L
authors.lastname: Ross
authors.affiliation: Quest Diagnostics, 8401 Fallbrook Avenue , West, Hills, California 91304, USA.
authors.forename: Loretta W
authors.initials: LW
authors.lastname: Mahon
authors.affiliation: Cytogenetics Department, Quest Diagnostics Nichols Institute, 33608 Ortega Hwy, San Juan Capistrano, California 92675, USA.
authors.forename: Arturo L
authors.initials: AL
authors.lastname: Anguiano
authors.affiliation: Cytogenetics Department, Quest Diagnostics Nichols Institute, 33608 Ortega Hwy, San Juan Capistrano, California 92675, USA.
authors.forename: Wang T
authors.initials: WT
authors.lastname: Boris
authors.affiliation: Cytogenetics Department, Quest Diagnostics Nichols Institute, 33608 Ortega Hwy, San Juan Capistrano, California 92675, USA.
authors.forename: Mohamed M
authors.initials: MM
authors.lastname: Elnaggar
authors.affiliation: Cytogenetics Department, Quest Diagnostics Nichols Institute, 33608 Ortega Hwy, San Juan Capistrano, California 92675, USA.
authors.forename: Jia-Chi J
authors.initials: JC
authors.lastname: Wang
authors.affiliation: Cytogenetics Department, Quest Diagnostics Nichols Institute, 33608 Ortega Hwy, San Juan Capistrano, California 92675, USA.
authors.forename: Charles M
authors.initials: CM
authors.lastname: Strom
authors.affiliation: Cytogenetics Department, Quest Diagnostics Nichols Institute, 33608 Ortega Hwy, San Juan Capistrano, California 92675, USA.
authors.forename: Fatih Z
authors.initials: FZ
authors.lastname: Boyar
keywords: CMA; Complex chromosomal rearrangement (CCR); Whole chromosome painting (WCP) FISH; microarray