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Updated: Jul 16, 2026

FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
De novo subtelomeric deletion additional to an inherited apparently balanced reciprocal translocation
A Delahaye1, E Pipiras, S Kanafani
1Service d'Histologie Embryologie Cytogénétique BDR, Hôpital Jean Verdier, AP-HP, Bondy, France.
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.
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