ABNORMAL KARYOTYPES
Title | ABNORMAL KARYOTYPES PDF eBook |
Author | Sana Nimer Abu Shihab |
Publisher | Author House |
Pages | 253 |
Release | 2013-10 |
Genre | Medical |
ISBN | 1491806281 |
In my first book (Your Easy Way To Chromosomes), the main topic was about the human chromosomes, their structures, abnormalities, syndromes, and chromosome analysis. In this book I focused on abnormal karyotypes and how chromosomal abnormalities happen. A karyotype is a picture of a person's chromosomes from body cells (blood, hair, or any other tissue), photographing them through a microscope and arranging them in pairs, ordered by size and position of centromere for chromosomes of the same size. Karyotype test (alternative names are Chromosome Analysis, Chromosomal Analysis) plays a role in: diagnosis genetic diseases which are related to chromosomal abnormalities, diagnosis some birth defects, and provides clinical utility in the diagnosis and treatment of hematologic malignancies. On the other hand some genetic abnormalities cannot be detected by karyotype analysis such as microdeletions. Karyotype helps clinical cytogeneticist to identify abnormalities by: Counting the number of chromosomes and looking for extra chromosome such as in trisomy 21 or missing chromosome in a karyotype such as in Turner syndrome. Looking for changes in chromosome structure such as chromosomal deletions, duplications, translocations, insertions, inversions and other chromosomal abnormalities. Writing a book related to your field shows your passion and commitment to your job. Sana Nimer [email protected] [email protected]
ABNORMAL KARYOTYPES
Title | ABNORMAL KARYOTYPES PDF eBook |
Author | Sana Nimer Abu Shihab |
Publisher | AuthorHouse |
Pages | 246 |
Release | 2013-11-13 |
Genre | Medical |
ISBN | 149180629X |
In my first book (Your Easy Way To Chromosomes), I talked mainly about the human chromosomes, their structures, abnormality, their syndromes, and chromosomes analysis. In this book I focused on how chromosomal abnormalities happened and showing some of abnormal karyotypes images for each chromosome . A karyotype is a picture of all the chromosomes from an individual’s cells (blood, hair, or any other tissue), photographing them through a microscope and arranging them in pairs, ordered by size and position of centromere. Karyotype test (alternative names Chromosomes Analysis) plays a role in diagnosis genetic diseases which related to chromosomal abnormalities, some birth defects, and even cancers such as certain hematologic and lymphoid disorders. On the other hand some genetic abnormalities cannot be detected by karyotype analysis such as microdeletions. Karyotype helps clinical cytogeneticist to identify abnormalities by: • Count the number of chromosomes and looking for extra such as trisomy 21 or missing chromosomes in a karyotype such as Turner syndrome. • Look for structural changes in chromosomes such as chromosomal deletions, duplications, translocations, or inversions. Writing a book related to your field shows your passion and commitment to your job Sana Nimer [email protected] [email protected]
Placental and Gestational Pathology with Online Resource
Title | Placental and Gestational Pathology with Online Resource PDF eBook |
Author | Raymond W. Redline |
Publisher | Cambridge University Press |
Pages | 367 |
Release | 2018-08-23 |
Genre | Medical |
ISBN | 1316632539 |
A guide to identifying disease processes in the placenta affecting pregnancy outcome, with current diagnostic criteria and clinical consequences.
Chromosome identification: Medicine and Natural Sciences
Title | Chromosome identification: Medicine and Natural Sciences PDF eBook |
Author | Torbjoern Caspersson |
Publisher | Elsevier |
Pages | 357 |
Release | 1973-01-01 |
Genre | Science |
ISBN | 0323162673 |
Chromosome Identification—Technique and Applications in Biology and Medicine contains the proceedings of the Twenty-Third Nobel Symposium held at the Royal Swedish Academy of Sciences in Stockholm, Sweden, on September 25-27,1972. The papers review advances in chromosome banding techniques and their applications in biology and medicine. Techniques for the study of pattern constancy and for rapid karyotype analysis are discussed, along with cytological procedures; karyotypes in different organisms; somatic cell hybridization; and chemical composition of chromosomes. This book is comprised of 51 chapters divided into nine sections and begins with a survey of the cytological procedures, including fluorescence banding techniques, constitutive heterochromatin (C-band) technique, and Giemsa banding technique. The following chapters explore computerized statistical analysis of banding pattern; the use of distribution functions to describe integrated profiles of human chromosomes; the uniqueness of the human karyotype; and the application of somatic cell hybridization to the study of gene linkage and complementation. The mechanisms for certain chromosome aberration are also analyzed, together with fluorescent banding agents and differential staining of human chromosomes after oxidation treatment. This monograph will be of interest to practitioners in the fields of biology and medicine.
ISCN 2013
Title | ISCN 2013 PDF eBook |
Author | International Standing Committee on Human Cytogenetic Nomenclature |
Publisher | Karger Medical and Scientific Publishers |
Pages | 148 |
Release | 2013 |
Genre | Medical |
ISBN | 3318022535 |
This publication extends the now classic system of human cytogenetic nomenclature prepared by an expert committee and published in collaboration with Cytogenetic and Genome Research' since 1963. Revised and finalized by the ISCN Committee and its advisors at a meeting in Seattle, Wash., in April 2012, the ISCN 2013 updates, revises and incorporates all previous human cytogenetic nomenclature recommendations into one systematically organized publication that supersedes all previous ISCN recommendations. There are several new features in ISCN 2013: an update of the microarray nomenclature, many more illustrative examples of uses of nomenclature in all sections some definitions including chromothripsis and duplication a new chapter for nomenclature that can be used for any region-specific assay. The ISCN 2013 is an indispensable reference volume for human cytogeneticists, technicians and students for the interpretation and communication of human cytogenetic nomenclature.
Chromosome Abnormalities and Genetic Counseling
Title | Chromosome Abnormalities and Genetic Counseling PDF eBook |
Author | R.J. MKinlay Gardner |
Publisher | OUP USA |
Pages | 650 |
Release | 2012 |
Genre | Medical |
ISBN | 0195375335 |
Advances in cytogenetics continue to crop up in wonderful ways, and we know exponentially more about chromosomes now than mere decades ago. Likewise, the necessary skills in offering genetic counseling continue to evolve. This new edition of Chromosome Abnormalities in Genetic Counseling offers a practical, up-to-date guide for the genetic counselor to marshal cytogenetic data and analysis clearly and effectively to families.
Screening for Down's Syndrome
Title | Screening for Down's Syndrome PDF eBook |
Author | J. G. Grudzinskas |
Publisher | Cambridge University Press |
Pages | 364 |
Release | 1994-11-17 |
Genre | Medical |
ISBN | 9780521452717 |
This important new publication summarises the recent exciting advances in screening for Down's syndrome. It addresses important clinical questions such as: risk assessment, who to screen, when to screen, which techniques to use, and the organisation of screening programmes nationally and internationally. An international and authoritative team of authors has been invited to assess the latest developments in this rapidly advancing area. The volume provides a critical and much needed evaluation of the potential and limitations of new and established techniques for screening for Down's syndrome. It will serve as an essential source of information for all those involved in pre-natal diagnosis and the provision of obstetric care.