Header

UZH-Logo

Maintenance Infos

Sonstiges - Catalogue of Unbalanced Chromosome Aberrations in Man


Schinzel, Albert (1986). Sonstiges - Catalogue of Unbalanced Chromosome Aberrations in Man. Journal of Perinatal Medicine, 14(3):1-2.

Abstract

This book presents a comprehensive and updated catalogue of the already large, and rapidly growing number of chromosome aberrations in man. A first section introduces the reader to cytogenetic nomenclature, the normal human karyotype, clinical and epidemiologic features and formation of chromosome aberrations. It is followed by chapters on aberrations of chromosomes 1-22, X, Y, triploidy and tetraploidy. Each aberration is presented with its clinical findings, course, mental development, outcome and cytogenetic findings. The more frequent aberrations are presented in illustration sections appended to each chromosome chapter. A consistent structure of the text and references provide for rapid orientation. For further study, the more recent and important literature is given for each aberration, up to the end of 1982. The literature is critically reviewed.
The book is completed by three indices: a list of genes mapped to chromosomes or chromosomal segments, an index of malformations and anomalies, and an author index.

Abstract

This book presents a comprehensive and updated catalogue of the already large, and rapidly growing number of chromosome aberrations in man. A first section introduces the reader to cytogenetic nomenclature, the normal human karyotype, clinical and epidemiologic features and formation of chromosome aberrations. It is followed by chapters on aberrations of chromosomes 1-22, X, Y, triploidy and tetraploidy. Each aberration is presented with its clinical findings, course, mental development, outcome and cytogenetic findings. The more frequent aberrations are presented in illustration sections appended to each chromosome chapter. A consistent structure of the text and references provide for rapid orientation. For further study, the more recent and important literature is given for each aberration, up to the end of 1982. The literature is critically reviewed.
The book is completed by three indices: a list of genes mapped to chromosomes or chromosomal segments, an index of malformations and anomalies, and an author index.

Statistics

Citations

Dimensions.ai Metrics

Altmetrics

Downloads

12 downloads since deposited on 26 Jan 2023
7 downloads since 12 months
Detailed statistics

Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Uncontrolled Keywords:Obstetrics and Gynecology, Pediatrics, Perinatology and Child Health
Language:English
Date:1 January 1986
Deposited On:26 Jan 2023 16:54
Last Modified:27 Jan 2023 17:18
Publisher:De Gruyter
ISSN:0300-5577
OA Status:Green
Publisher DOI:https://doi.org/10.1515/jpme.1986.14.3.u
  • Content: Published Version
  • Language: English