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The development of cytogenetic techniques over the past 20 years has produced a prodigious body of information about chromosomal abnormalities as they relate to ocular defects. Recognition of previously unappreciated syndromes and of chromosomal aberrations continues to occur with surprising frequency. It is somewhat distressing to observe that the great majority of these observations are made by nonophthalmologists even though ocular aberrations are present in most cases. Thus, familiarity with this excellent, concise, and lucid text covering ocular defects associated with chromosomal structural abnormalities is warranted.
The first chapter provides an excellent review of the concepts and terms of cytogenetics so that the clinician can understand them. The discussion begins with mitosis, meiosis, and cytogenetic technique.
The next chapters review chromosomal deletion disorders with ocular components. In addition to discussions on incidence, phenotype, ocular abnormalities, and cytogenetics, exhaustive literature review tables permit assessment of various feature frequencies at a glance.
Frank Judisch. The Eye in Chromosome Duplications and Deficiencies. Arch Ophthalmol. 1977;95(11):2080. doi:10.1001/archopht.1977.04450110174030