Format:
Online-Ressource (XX, 220p. 64 illus., 5 illus. in color, digital)
ISBN:
9783642207662
,
9781283449151
Series Statement:
SpringerLink
Content:
Human beings normally have a total of 46 chromosomes, with each chromosome present twice, apart from the X and Y chromosomes in males. Some three million people worldwide, however, have 47 chromosomes: they have a small supernumerary marker chromosome (sSMC) in addition to the 46 normal ones. This sSMC can originate from any one of the 24 human chromosomes and can have different shapes. Approximately one third of sSMC carriers show clinical symptoms, while the remaining two thirds manifest no phenotypic effects. This guide represents the first book ever published on this topic. It presents the latest research results on sSMC and current knowledge about the genotype-phenotype correlation. The focus is on genetic diagnostics as well as on prenatal and fertility-related genetic counseling. A unique feature is that research meets practice: numerous patient reports complement the clinical aspects and depict the experiences of families living with a family member with an sSMC
Content:
Human beings normally have a total of 46 chromosomes, with each chromosome present twice, apart from the X and Y chromosomes in males. Some three million people worldwide, however, have 47 chromosomes: they have a small supernumerary marker chromosome (sSMC) in addition to the 46 normal ones. This sSMC can originate from any one of the 24 human chromosomes and can have different shapes. Approximately one third of sSMC carriers show clinical symptoms, while the remaining two thirds manifest no phenotypic effects. This guide represents the first book ever published on this topic. It presents the
Note:
Includes bibliographical references (p. 205-215) and index
,
Small Supernumerary Marker Chromosomes (sSMC); 4.3 sSMC in Genetic Counseling; 6.5 Chromosome 5; 6.5.1 Potentially Non-dose-sensitive Pericentric Region; Chapter 11: Small Supernumerary Marker Chromosomes and Tumors; A2.1.2 Restricted Growth Association; A2.1.3 Human Growth Foundation; A2.2 Chromosome 9; A2.2.1 9TIPS Trisomy 9 International Parent Support; A2.2.2 Trisomy 9; A2.3.1 European Chromosome 11 Network; A2.4.1 PKS Kids; A2.4.2 PKS Support Online; A2.4.2 PK Syndrome Online; A2.6.4 Prader-Willi Syndrome; A2.6.6 Prader Willi Syndrom Vereinigung Deutschland e.V.
,
A2.6.7 Prader-Willi Syndrome Association (UK)A2.6.8 Prader-Willi Association (USA); A2.6.9 Prader-Willi Syndrome Association (NZ); A2.6.10 Angelman Syndrome; A2.6.11 The International Angelman Syndrome Organisation; A2.6.12 ASSERT Angelman Syndrome Support Education and Research Trust; A2.6.13 Angelman Syndrome Foundation; A2.6.14 Angelman Syndrome Association of Australia (Inc); A2.6.15 Angelman New Zealand; References; Index;
Additional Edition:
ISBN 9783642207655
Additional Edition:
Buchausg. u.d.T. Liehr, Thomas, 1965 - Small supernumerary marker chromosomes (sSMC) Berlin : Springer, 2012 ISBN 3642207650
Additional Edition:
ISBN 9783642207655
Language:
English
Subjects:
Biology
Keywords:
Markerchromosom
;
Erbkrankheit
;
Markerchromosom
;
Markerchromosom
;
Erbkrankheit
;
Fallstudiensammlung
DOI:
10.1007/978-3-642-20766-2
URL:
Volltext
(lizenzpflichtig)
Author information:
Liehr, Thomas 1965-
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