De novo apparently balanced reciprocal translocation between 5q1l.2 and 17q23 associated with Klippel‐Feil anomaly and type A1 brachydactyly
- 3 July 1995
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 57 (3) , 447-449
- https://doi.org/10.1002/ajmg.1320570317
Abstract
We report on a girl with Klippel‐Feil anomaly, type Al brachydactyly, and minor facial anomalies. She has an apparently balanced de novo reciprocal translocation between 5q1l.2 and 17q23. The possible significance of this chromosomal abnormality is discussed.Keywords
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