Open Access Medical Books



Edited by Subrata Kumar Dey .

270 pages . 
Open Access . 

This book provides recent developments and advances in research on Down syndrome.
It covers a wide range of topics, including investigations on prenatal diagnosis and screening, genetic counseling, neoplastic disease, congenital heart disease, dentistry and oral health, obesity, molecular genetics and neurological disorders in Down syndrome.
It is also a resource for scientists and research workers who wish to learn more about Down syndrome. To date, well over one hundred chromosome syndromes have been reported. Whilst on an individual basis many of these are rare, together they make a major contribution to human morbidity and mortality. Chromosome aneuploidies are now known to account for a large proportion of spontaneous pregnancy loss and childhood disability, and can also contribute to the genesis of a significant proportion of malignancy.
Trisomy 21 in humans, commonly referred as Down syndrome, is the most common genetic cause of mental retardation and most frequent autosomal trisomies in liveborns. In approximately ninety five percent of cases, the extra chromosome occurs as a result of meiotic nondisjunction or abnormal segregation of chromosome. The cause of nondisjunction of chromosome 21 is largely unknown. Although several hypotheses have been suggested, it is still unclear as to whether particular gene loci on chromosome 21 are sufficient to cause Down syndrome and its associated features. The risk factors associated with the birth of Down syndrome are enigmatic. The overall maternal risk factors for Down syndrome birth are multifactorial and include both genetic and environmental factors.
This book is organized into four sections. All sections include chapters on recent advances in research on Down syndrome. The editor endeavored to keep the big picture and overarching philosophy of the review articles in focus while editing the text and illustrations for consistent use of scientific terminology and level of exposition.
The first section deals with our present knowledge on common diseases in Down syndrome.
The second one discusses the present status of investigations on molecular genetics of Down syndrome. The third section covers the recent investigations on neurological disorders in Down syndrome, and the concluding section focuses on prenatal diagnosis, screening and genetic counseling in Down syndrome.
This book provides a concise yet comprehensive source of current information on Down syndrome. Research workers, scientists, medical graduates and pediatricians will find the book Down syndrome an excellent source for reference and review.
The editor wants to acknowledge the superb assistance of staff members and management of InTech Publisher. In particular, Mr. Dejan Grgur for co-ordination and editorial assistance. We are grateful to all contributing authors and scientists who made this book possible by providing valuable research and review articles. Finally, I would like to dedicate this book to children with Down syndrome who need our love and care to lead a healthy life.

Dr. Subrata Dey
School of Biotechnology & Biological Sciences,
West Bengal University of Technology,


Section 1 of the textbook : Prenatal Diagnosis and Genetic Counseling .

1 Down Syndrome: Clinical and Genetic Aspects, Genetic 
Counseling and Prenatal Screening and Diagnosis 3 Érika Cristina Pavarino, Joice Matos Biselli, Walter Pinto Junior and Eny Maria Goloni Bertollo

2 Increased Fetal Nuchal Translucency Thickness and Normal 
Karyotype: Prenatal and Postnatal Outcome 21 Ksenija Gersak, Darija M. Strah and Maja Pohar-Perme

3 Prenatal Screening and Diagnosis 35 
Jaana Marttala

Section 2 of the textbook : Diseases in Children with Down Syndrome .

4 Control of Dental Biofilm and Oral Health Maintenance in 
Patients with Down Syndrome 65 Ana Paula Teitelbaum and Gislaine Denise Czlusniak

5 How to Design an Exercise Program TO Reduce Inflammation 
in Obese People With Down Syndrome 83 Francisco J. Ordonez, Gabriel Fornieles, Alejandra Camacho, Miguel A. Rosety, Antonio J Diaz, Ignacio Rosety, Natalia Garcia and Manuel Rosety-Rodriguez

6 Heart Diseases in Down Syndrome 95 
A. K. M. Mamunur Rashid

7 Myeloid Leukemia Associated with Down Syndrome 107 
Kazuko Kudo

Section 3 of the textbook : Genetics of Down Syndrome .

8 Molecular Pathways of Down Syndrome Critical 
Region Genes 117 Ferdinando Di Cunto and Gaia Berto

9 Risk Factors for Down Syndrome Birth: Understanding the 
Causes from Genetics and Epidemiology 149 Sujay Ghosh and Subrata Kumar Dey

10 RCAN1 and Its Potential Contribution to the Down Syndrome 
Phenotype 173 Melanie A. Pritchard and Katherine R. Martin

Section 4 of the textbook : Neural Development in Down Syndrome .

11 Laterality Explored: Atypical Hemispheric Dominance in Down 
Syndrome 209 George Grouios, Antonia Ypsilanti and Irene Koidou

12 Genetic and Epigenetic Mechanisms in Down 
Syndrome Brain 237 Jie Lu and Volney Sheen .

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