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Consisting of more than 200 chromosomal aneuploidy syndromes, theHandbook Chromosomal Syndromes is the up-to-date reference to focusexclusively on clinical syndromes due to chromosomal abnormalities.For each syndrome, easy-to-use guide offers a complete descriptionof clinical presentation, with illustrations, as well asinformation on behavioral aspects, life expectancy, diagnosis, andcytogenetics. Features of the text include:• A section devoted to the nomenclature of chromosomeabnormalities• Pictorial material suitable to be shown to patientpopulations• Descriptions of the phenotype in tabular and text form forquick and easy reference• Ideograms for each entry• A list of key references
|Product dimensions:||7.09(w) x 10.37(h) x 0.95(d)|
About the Author
Dr. Digamber S. Borgaonkar obtained his Ph.D. degree in genetics from Oklahoma State University. He joined the Division of Medical Genetics at Johns Hopkins University School of Medicine as Director of the Chromosome Laboratory in 1964. Dr. Borgaonkar initiated the Chromosomal Variation in Man database www.wiley.com/borgaonkar at Johns Hopkins in 1974. He was later appointed human medical geneticist for the State of Delaware.
Dr. G. Shashindhar Pai has been an active teacher, practitioner and researcher of clinical genetics for more than 25 years. The author of nearly 100 papers relating to clinical genetics and cytogenetics, Dr. Pai currently serves on the faculty of the Division of Genetics at the Medical University of South Carolina.
Dr. Raymond Lewandowski is at the Center for Genetic Services in Corpus Christi, Texas.
Read an Excerpt
Handbook of Chromosomal Syndromes
By G. Shashidhar Pai Raymond C. Lewandowski Jr., Digamber S. Borgaonkar
John Wiley & SonsCopyright © 1989 John Wiley & Sons
All right reserved.
Chapter OneCHROMOSOME 1p PARTIAL TRISOMY
Chromosome 1p partial trisomy is a rare chromosomal abnormality with a limited number of patients reported. Although a distinctive phenotype is not apparent, the reported patients do share some frequent features.
MAIN FEATURES: Craniofacial anomalies, growth delay, malformed ears
Growth: Growth delay
Performance: Developmental delay, motor delay, hypotonicity, mental retardation, seizures
Eyes: Ptosis, hypertelorism, long eyelashes
Craniofacies: Microcephaly, anteverted nares, micrognathia, cleft lip/palate, at nasal bridge, high-arched palate, malformed ears, epicanthal folds
Other: Syndactyly, thoracic stenosis, adrenal hyperplasia, genital ambiguity, cryptorchidism
CLINICAL COURSE: Early demise has been reported in several patients.
CYTOGENETICS: Inherited rearrangements are unusual.
Excerpted from Handbook of Chromosomal Syndromes by G. Shashidhar Pai Raymond C. Lewandowski Jr., Digamber S. Borgaonkar Copyright © 1989 by John Wiley & Sons. Excerpted by permission.
All rights reserved. No part of this excerpt may be reproduced or reprinted without permission in writing from the publisher.
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Table of Contents
Preface.Chromosome 1p partial trisomy.Chromosome 1p partial monosomy.Chromosome 1q partial trisomy.Chromosome 1q partial monosomy.Ring Chromosome 1.Chromosome 2p partial trisomy.Chromosome 2p partial monosomy.Chromosome 2q partial trisomy.Chromosome 2q partial monosomy.Ring Chromosome 2.Chromosome 3p partial trisomy.Chromosome 3p partial monosomy.Chromosome 3q partial trisomy.Chromosome 3q partial monosomy.Ring Chromosome 3.Chromosome 4p partial trisomy.Chromosome 4p partial monosomy.Chromosome 4q partial trisomy.Chromosome 4q partial monosomy.Ring Chromosome 4.Chromosome 5p partial trisomy.Chromosome 5p partial monosomy.Chromosome 5q partial trisomy.Chromosome 5q partial monosomy.Ring Chromosome 5.Chromosome 6p partial trisomy.Chromosome 6p partial monosomy.Chromosome 6q partial trisomy.Chromosome 6q partial monosomy.Ring Chromosome 6.Chromosome 7p partial trisomy.Chromosome 7p partial monosomy.Chromosome 7q partial trisomy.Chromosome 7q partial monosomy.Ring Chromosome 7.Chromosome 8p partial trisomy.Chromosome 8p partial monosomy.Chromosome 8q partial trisomy.Chromosome 8q partial monosomy.Ring Chromosome 8.Chromosome 9p partial trisomy.Chromosome 9p partial monosomy.Chromosome 9q partial trisomy.Chromosome 9q partial monosomy.Ring Chromosome 9.Chromosome 10p partial trisomy.Chromosome 10p partial monosomy.Chromosome 10q partial trisomy.Chromosome 10q partial monosomy.Ring Chromosome 10.Chromosome 11p partial trisomy.Chromosome 11p partial monosomy.Chromosome 11q partial trisomy.Chromosome 11q partial monosomy.Ring Chromosome 11.Chromosome 12p partial trisomy.Chromosome 12p tetrasomy.Chromosome 12p partial monosomy.Chromosome 12q partial trisomy.Chromosome 12q partial monosomy.Ring Chromosome 12.Chromosome 13 trisomy.Chromosome 13q partial monosomy.Chromosome 14 trisomy mosaicism.Chromosome 14q partial trisomy.Chromosome 14q partial monosomy.Uniparental disomy 14.Chromosome 15 trisomy.Chromosome 15q proximal trisomy.Chromosome 15q partial monosomy.Angelman syndrome.Prader-Willi syndrome.Ring Chromosome 15.Chromosome 16p partial trisomy.Chromosome 16q partial trisomy.Chromosome 16q partial monosomy.Chromosome 17p partial trisomy.Chromosome 17p11.2 monosomy.Chromosome 17p13 monosomy.Chromosome 17q partial trisomy.Chromosome 17q partial monosomy.Chromosome 18 trisomy.Chromosome 18p partial monosomy.Chromosome 18q partial monosomy.Chromosome 19q partial trisomy.Ring Chromosome 19.Chromosome 20p partial trisomy.Chromosome 20p partial monosomy.Ring Chromosome 20.Chromosome 21 trisomy.Chromosome 21q complete monosomy/partial monosomy.Ring Chromosome 21.Chromosome 22 trisomy.Chromosome 22pter q11 trisomy/tetrasomy.Chromosome 22q proximal monosomy.Chromosome 22q distal monosomy.Ring Chromosome 22.Chromosome 47,XXY and 48,XXYY syndrome.Chromosome 49,XXXXX syndrome.Chromosome 49,XXXXY syndrome.Chromosome 47,XYY and 48,XYYY.Monosomy X syndrome.Tetraploidy and Tetraploid/Diploid Mixoploidy.Triploidy and Diploid/Triploid Mixoploidy.