Prenatal diagnosis of human genome variation.

INTRODUCTION 235 DETECTION OF GENOME VARIATION AT THE DNA LEVEL 236 Qualitative Variation 236 Changes of endonuclease recognition sites within genes 236 Ch�nge� of end?n�c1ease recognition sites within flanking sequences 237 Quantitative VarzatlOn 241 Tandemly duplicated genes 241 Satellite (simple sequence) DNAs 243 DETECTION OF GENOME VARIATION AT THE CHROMOSOMAL LEVEL 244 Neutral Variation: Heteromorphisms. Robertsonian Translocations. and Other Balanced Rearrangements ..... ... 244 Variation with Definite Phenotypic Effects ...... 245 Somatic Variation: Chromosomal Mosaicism 248 PERSPECTIVE 249

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