Array-based comparative genomic hybridization detection of cryptic copy number variations in a fetus with de novo complex chromosome rearrangement
AIM: To detect whether the breakpoint regions of a complex chromosomal rearrangement (CCR) host cryptic submicroscopic copy number variations (CNVs) , ascertain the complexity of the rearrangement, and investigate possibility and superiority of array-based comparative genomic hybridization ( array-CGH ) in molecular cytogenetic diagnosis. METHODS: The whole genome of a fetus with de novo apparently balanced CCR [ 46, XX, t (4; 5 ;15) (4pter→q23:: 15q23→5qter; 4qter→q23:: 5pl5→5qter; 15pter→5q23 : : ) dn] diagnosed by G-banding and multi colour fluorescence in situ hybridization was scanned and analysed by array-CGH. RESULTS: Three submicroscopic CNVs, dup(5) (ql3.2) (69274233-70622915, -1.35 Mb), del( 15) (qll.2) (18657188-20080135, - 1.42 Mb) and del (18 ) (pll.31-pl1.23) (7069849-7567290, -0.49 Mb) were identified and mapped. All the CNVs locate outside the breakpoints, none of which is associated with translocation breakpoint regions. CONCLUSION: This study provides evidence that apparently balanced CCRs classified by conventional cytogenetic techniques may host additional chromosomal imbalances which are not always located at the breakpoints, and array-CGH is a useful tool for detecting and mapping cryptic submicroscopic imbalances.
array-based comparative genomic hybridizationcomplex chromosome rearrangementcopy number alterationscytogenetic diagnosisgenome
NETL
NSTL
万方数据
维普
