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Journal of Bone and Joint Surgery, 1967;49:1436-1454.
© 1967 by The Journal of Bone and Joint Surgery, Inc

Human Cytogenetics: A Brief Review and Presentation of New Findings

WALTER E. NANCE M.D1 and ERIC ENGEL M.D.2

1 Assistant Professor of Medicine and Head, Division of Medical Genetics, Vanderbilt University School of Medicine, Nashville, Tennessee 37203
2 Associate Professor of Medicine, Vanderbilt University School of Medicine, and Chief of Cytogenetics Laboratory, Vanderbilt University Hospital, Nashville, Tennessee 37203

A survey of human cytogenetics has been presented, including a discussion of terminology, normal karyotype, and the classic sex chromosome anomalies as well as a description of the autosomal trisomy and deletion syndromes. Several rare cases have been reported to illustrate translocation, double aneuploidy, pericentric inversions, and ring chromosome. The importance of chromosome defects in orthopaedics has been noted, and reasons have been given for believing that these aberrations may constitute a major cause of morbidity and mortality in man.


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