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

Journal Article · · American Journal of Medical Genetics

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. 7 refs., 3 figs.

Sponsoring Organization:
USDOE
OSTI ID:
105211
Journal Information:
American Journal of Medical Genetics, Vol. 57, Issue 3; Other Information: PBD: 3 Jul 1995
Country of Publication:
United States
Language:
English