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The development in 1956 of an effective method for human chromosome study and the subsequent demonstration in 1959 that patients with Down syndrome have 47 chromosomes opened a new era in medical genetics. Since then, cytogenetics, the study of the relationship of the microscopic appearance of chromosomes to the genotype and phenotype of the individual, has advanced rapidly. It is now well established that chromosomal abnormalities are responsible for many spontaneous abortions and congenital defects. Enough knowledge has accumulated in the field of ocular cytogenetics to warrant a book.
The text is divided into four parts. Part one deals with the fundamentals of cytogenetics, covering such topics as techniques, the normal human karyotype and its variants, types of chromosomal anomalies, etiologic factors in chromosomal anomalies, chromosomes and abortion, constitutional chromosomal aberrations, and gene mapping. Parts two and three, which represent about 70% of the book, are concerned with anomalies of
Judisch GF. Chromosomal Aberrations in Ophthalmology,. Arch Ophthalmol. 1976;94(9):1642. doi:10.1001/archopht.1976.03910040472039