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Case Reports
. 1995 Jul 3;57(3):447-9.
doi: 10.1002/ajmg.1320570317.

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

Y Fukushima  1 , H Ohashi, K Wakui, H Nishimoto, M Sato, T Aihara
Affiliations
Case Reports

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

Y Fukushima et al. Am J Med Genet. .

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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