Handbook of Chromosomal Syndromes

ISBN-13: 9780471372172 / Angielski / Twarda / 2002 / 376 str.

G. Shashidhar Pai; Raymond C. Lewandowski; Digamber S. Borgaonkar

Opis

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

Recenzje

" includes an extensive collection of references and clinical photographs." ( American Journal of Medical Genetics, January 1, 2004)

Spis treści

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.

Blurb

In the past, medical researchers and practicing clinicians have lacked a single, comprehensive resource on chromosome disorders, the cause of a wide variety of growth abnormalities and miscarriages. As new syndromes are being defined and known syndromes better described, patients with chromosomal abnormalities and their families are making greater demands on professionals for more extensive information. Consisting of more than 200 chromosomal aneuploidy syndromes, the Handbook of Chromosomal Syndromes is the most up–to–date reference to focus exclusively on clinical syndromes due to chromosomal abnormalities.

This fully illustrated guide is ideal for clinicians to use as a ready reference and for treatment and counseling of families and expectant parents facing abnormal prenatal tests. For each syndrome, this 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

Practicing clinicians–including primary care providers, pediatricians, and obstetricians–genetic counselors, researchers, and clinical and medical geneticists will find the Handbook of Chromosomal Syndromes to be an indispensable resource.