Supplementary Material for: De novo Subtelomeric Deletion Additional to an Inherited Apparently Balanced Reciprocal Translocation

<i>Objective:</i> We describe the analysis of an apparently balanced inherited reciprocal translocation in a fetus presenting with multiple congenital abnormalities, characterize the structural chromosome rearrangement, and report an unexpected additional imbalance to the inherited rearrangement. <i>Methods:</i> DNA microarray was used to screen for genomic imbalance in subtelomeric and interstitial critical regions. High-resolution comparative genomic hybridization was used to screen for genomic imbalance at a genome-wide level. Fluorescence in situ hybridization using whole-chromosome painting and specific probes was used to characterize the inherited translocation, and the size of the de novoadditional deletion. <i>Results:</i> An unexpected additional deletion was found in 7qter on derivative 10 of the inherited maternal reciprocal translocation t(7;10)(q11.23; p14). <i>Conclusions:</i> We show the usefulness of genome-wide and specific molecular cytogenetic techniques to explore apparently balanced rearrangements.