Distinct phenotype associated with a cryptic subtelomeric deletion of 19p13.3-pter.

Abstract

Telomeres are gene rich regions with a high recombination rate. Cryptic subtelomeric rearrangements are estimated to account for 5% of mental retardation/malformation syndromes. Here we present the first patient with a deletion of 19p13.3, identified by subtelomeric FISH analysis. His features included a distinctive facial appearance, cleft palate, hearing… (More)

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Cite this paper

@article{Archer2005DistinctPA, title={Distinct phenotype associated with a cryptic subtelomeric deletion of 19p13.3-pter.}, author={Hayley L Archer and S. Gupta and Steven J. Enoch and P. Thompson and Anthony W Rowbottom and Ian S Chua and S. Warren and D. Johnson and D. H. Ledbetter and Christa Lese-Martin and P Andrew Williams and Daniela T. Pilz}, journal={American journal of medical genetics. Part A}, year={2005}, volume={136 1}, pages={38-44} }