Handbook of Chromosomal Syndromes

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Wiley, 2003 - Medical - 361 pages
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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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Contents

Chromosome la partial trisomy
14
Chromosome 2a partial monosomy
31
Ring Chromosome 3
46
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