1. De novo Subtelomeric Deletion Additional to an Inherited Apparently Balanced Reciprocal Translocation.
- Author
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Delahaye, A., Pipiras, E., Kanafani, S., Touboul, C., Vergnaud, A., Encha-Razavi, F., Sinico, M., Benkhalifa, M., Kasakyan, S., Serero, S., Wolf, J. P., Gérard-Blanluet, M., and Benzacken, B.
- Subjects
HUMAN abnormalities ,GENETICS ,IN situ hybridization ,FLUORESCENCE in situ hybridization ,HEREDITY - Abstract
Objective: 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. Methods: 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. Results: An unexpected additional deletion was found in 7qter on derivative 10 of the inherited maternal reciprocal translocation t(7;10)(q11.23; p14). Conclusions: We show the usefulness of genome-wide and specific molecular cytogenetic techniques to explore apparently balanced rearrangements. Copyright © 2007 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]
- Published
- 2007
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