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## Meet the editors

Dr. Tülay Aşkın Çelik gained her PhD from Fırat University, Art and Science Faculty, Department of Biology, Elazığ/TUR-KEY. Presently she is an Associate Professor at Aydın Adnan Menderes University, Art and Science Faculty, Department of Biology, Aydın/TURKEY in the field of genetics. She has been a referee for more than 25 international scientific journals and she worked as a researcher and project manager in 13 projects. She

is a referent for issues related to the fields of genetic toxicology and anticancer and antioxidant plants. In 2008, she became a member of the European Association for Cancer Research (EACR) and Molecular Cancer Research Association (MOKAD) and in 2018, she became a member of the Medical Biology and Genetics Association (TBGDER). Currently, her scientific interests include bioactive phytochemicals and plant extracts on their cytogenetic and gentotoxic effects on chromosomes and cancer cells and in vivo /in vitro biological activities. Furthermore, she is also investigating the genotoxic and cytotoxic effects of environmental pollutants such as pesticides. She has authored one book and two book chapters in reputed books published by IntechOpen Access Publisher.

Prof. Subrata Dey received his Ph.D. degree from the University of Kalyani, India. He joined the faculty of Maulana Abul Kalam Azad University of Technology (formerly known as West Bengal University of Technology) as Professor of Biotechnology in 2005. His laboratory has long been involved in research on the molecular genetics of Down syndrome and other congenital disorders, the genetics of Alzheimer's disease, the genetics of congenital

heart disease, radiation-induced genomic instability, radioprotection and stem cell biology. Prof. Dey received a Golden Jubilee Award for excellence in teaching and research. He has published more than 80 research papers in referred journals, edited five books on Down syndrome and has completed eleven research projects funded by the Government Of India. Several students also received their Ph.D. under his supervision. Along with teaching and research, Prof. Dey has handled a number of administrative assignments successfully and made dedicated and innovative approaches with great integrity. Major administrative roles were Director of School of Biotechnology and Biological Sciences, Founder Co-ordinator of Centre for Genetic Studies, Member-Coordinator of Ekta Incubation Centre, Pro-Vice Chancellor and Vice-Chancellor of Maulana Abul Kalam Azad University of Technology, Vice Chancellor of Brainware University. Recently he joined as Vice Chancellor of Swami Vivekananda University, West Bengal, India.

Contents

**Section 1**

**Section 2**

*by Tülay Aşkin Çelik*

**Preface XI**

Introduction **1**

**Chapter 1 3**

Chromosomal Abnomalities Observed in Humans **7**

**Chapter 2 9**

**Chapter 3 33**

**Chapter 4 51**

**Chapter 5 65**

**Chapter 6 79**

Introductory Chapter: Chromosomal Abnormalities

and Major Fetal Anomalies in the Second Trimester

Impact of Biological Factors Related to Maternal Aging:

Gene Polymorphisms That Predispose Women for Down

*Meryem Qachouh, Mouna Lamchahab and Asmaa Quessar*

First-Tier Array CGH in Clinically Variable Entity Diagnosis:

*by Magdalena Budisteanu, Andreea Tutulan-Cunita, Ina Ofelia Focsa,* 

Current Cytogenetic Abnormalities in Acute Myeloid Leukemia *by Mounia Bendari, Nisrine Khoubila, Siham Cherkaoui, Nezha Hda,* 

*by Artúr Beke and Aténé Simonyi*

*and Mandar Bhattacharya*

Syndrome Child Birth

*by Sujay Ghosh and Papiya Ghosh*

22q13.3 Deletion Syndrome

*Sorina Mihaela Papuc and Aurora Arghir*

Risk of Childbirth with Down Syndrome *by Subrata Kumar Dey, Pranami Bhaumik* 

The Risk of Chromosomal Abnormalities in Cases of Minor

### Contents



Preface

Cytogenetics is the study of chromosome structure and function in relation to phenotypic expression. Chromosomal defects underlie the development of a broad assortment of diseases and conditions ranging from Down syndrome to cancer and are of common concern in both fundamental and clinic research. Chromosomal defects are one of the most common causes of genetic disorders and are responsible for a large proportion of miscarriages. As a result, increasing numbers of parents are becoming interested in genetic counseling in order to learn about the risks of reproductive failure or to understand why they had a child with a particular defect, whether it will happen again, and what might have been done to prevent it. This book discusses the basic biological theory underlying chromosomal abnormalites and provides detalied information on the reproductive risks of chromosomally

*Chromosome Abnormalities* is a web-based resource that contains a series of chapters highlighting several aspects related to the generation of chromosomal abnormalities in genetic material. It is an essential resource for cytogeneticists, laboratory personnel, clinicians, research scientists, and students in the field. The book focuses on known or theorized issues directly related to chromosomal abnormalities observed in humans and plants in light of current scientific information in three separate parts: "Introduction", "Chromosomal Abnomalities Observed in Humans" and

In the introductory chapter, Dr. Tülay Aşkın Çelik from Aydın, Turkey, defines, classifies, and provides general information about chromosomal anomalies and how they occur. In addition, the chapter examines the effects of structural and numerical changes in chromosomes, especially on human health. Finally, it emphasizes the importance of classical and molecular cytogenetic techniques in important potential applications, especially in clinical trials and biomedical diagnosis, comparing them against other molecular and genomic methods.

Chapter 2, "The risk a chromosomal abnormalities in cases of minor and major fetal anomalies in the second trimester," by Drs. Beke and Simonyi from Budapest, Hungary, describes the major and minor abnormalities that may occur in normal pregnancy, but that also increase the risk of certain chromosome aberrations. One of the most important techniques for diagnosing chromosomal abnormalities is the fetal ultrasound. In this chapter, researchers emphasize the importance of screening minor and major ultrasound abnormalities in detecting chromosomal abnormalities

Chapter 3, "Impact of biological factors related to maternal aging: risk of childbirth with Down Syndrome," by Dr. Kumar Dey et al., from West Bengal, India, discusses how maternal aging and multiple biological factors, such as hormones, play a key role in Down syndrome. Hormonal dysfunction also affects the meiotic process and spindle structure integrity and contributes to chromosome nondisjunction. This chapter also discusses the association between maternal age, ovarian aging, environmental factors, and telomere shortening at older reproductive age and the

abnormal individuals and of normal parents.

"Chromosomal Abnomalities Observed in Plants."

in the second trimester of pregnancy.

birth of infants with trisomy 21 Down syndrome.
