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The impact of new techniques and knowledge in genetics on medical practice continues to grow. This new edition of McKusick's well-known monograph on human genetics is appropriately expanded but remains concise and interestingly written. The organization of the book is unchanged, although nearly every chapter contains new material. Review of the major chromosomal syndromes includes newly written sections on the XYY male and chromosomal changes in abortion and aging. This chapter ends with a discussion contrasting chromosomal aberrations with point mutations. Further additions include a brief description of the standardized shorthand for indicating abnormal karyotypes and an expansion of the section on linkage to include new methods for mapping genes. Also included in this chapter is a novel method for illustrating Mendel's laws of segregation and independent assortment utilizing a chromosome aberration which occurs with high frequency among members of an oldorder Amish community.
The discussion of protein structure and
Goyer RA. Human Genetics. JAMA. 1970;211(4):664–665. doi:10.1001/jama.1970.03170040068028