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

Y Fukushima; H Ohashi; K Wakui; H Nishimoto; M Sato; T Aihara

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

Am J Med Genet. 1995 Jul 3;57(3):447-9. doi: 10.1002/ajmg.1320570317.

Authors

Y Fukushima¹, H Ohashi, K Wakui, H Nishimoto, M Sato, T Aihara

Affiliation

¹ Division of Medical Genetics, Saitama Children's Medical Center, Japan.

PMID: 7677149
DOI: 10.1002/ajmg.1320570317

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Cervical Vertebrae / abnormalities*
Cervical Vertebrae / diagnostic imaging
Child
Chromosome Banding
Chromosomes, Human, Pair 17*
Chromosomes, Human, Pair 5*
Face / abnormalities
Female
Foot Deformities, Congenital / genetics
Hand Deformities, Congenital / diagnostic imaging
Hand Deformities, Congenital / genetics*
Humans
Radiography
Translocation, Genetic*