Human cytogenetics

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This is the fourth edition of an acclaimed introductory textbook on the structure and function of human chromosomes. The book is strengthened by the complete revision of material on the molecular genetics of chromosomes and chromosomal defects.

Human beings normally have a total of 46 chromosomes, with each chromosome present twice, apart from the X and Y chromosomes in males. Some three million people worldwide, however, have 47 chromosomes: they have a small supernumerary marker chromosome (sSMC) in addition to the 4…