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Book Summary: Consisting of more than 200 chromosomal aneuploidy syndromes, the Handbook Chromosomal Syndromes is the up-to-date reference to focus exclusively on clinical syndromes due to chromosomal abnormalities. For each syndrome, easy-to-use guide offers a complete description of clinical presentation, with illustrations, as well as information on behavioral aspects, life expectancy, diagnosis, and cytogenetics. Features of the text include: • A section devoted to the nomenclature of chromosome abnormalities • Pictorial material suitable to be shown to patient populations • Descriptions of the phenotype in tabular and text form for quick and easy reference • Ideograms for each entry • A list of key references |
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