De novo apparently balanced reciprocal translocation between 5q11.2 and 17q23 associated with Klippel-Feil anomaly and type A1 brachydactyly.

Abstract

We report on a girl with Klippel-Feil anomaly, type A1 brachydactyly, and minor facial anomalies. She has an apparently balanced de novo reciprocal translocation between 5q11.2 and 17q23. The possible significance of this chromosomal abnormality is discussed.

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@article{Fukushima1995DeNA, title={De novo apparently balanced reciprocal translocation between 5q11.2 and 17q23 associated with Klippel-Feil anomaly and type A1 brachydactyly.}, author={Yuta Fukushima and Haruhiko Ohashi and Keiko Wakui and Hitomi Nishimoto and Masaaki Sato and Takeshi Aihara}, journal={American journal of medical genetics}, year={1995}, volume={57 3}, pages={447-9} }