Aneuploidy Essays

Eyewitness testimony in children (Memory) Eyewitness testimony is something which describes a person’s observations about any event or incident. Remembering something and recalling it later is possible because of memory. So, the ability of an organism to record information about things or events with the facility of recalling them later at will or when asked is memory. Eyewitness testimony in children is a part of their reconstructive memory according to “Elizabeth Loftus”. Reconstructive memory

The karyotype pictured is what happens when there is a full or extra pair for the chromosome 21 and that means the person has Down syndrome. Down syndrome is a genetic defect that causes developmental delays and specific physical characteristics. Some of the physical characteristics are low muscle tone, small body height, upward slanted eyes, and oddly a single deep crease across the center of the palm. Medically 40-50% have congenital heart defects, 65% have hearing issues, and 50% have vision

Super male syndrome Nick Robbertse 47, XYY syndrome is characterized by an extra copy of the Y chromosome in each of a male’s cell. Although males with this XYY syndrome may be taller than the average man, Most males with 47, XYY syndrome have normal sexual development and are allegeable to father children. XYY syndrome has increased risk of learning disabilities and delayed development of speech and other language skills. Delayed development of motor

Angel is an 18yo, primigravida, who is currently 29 weeks 4 days as dated by LMP consistent with a 17 week ultrasound performed in an emergency room in North Carolina. She did not have any PNC until 28 weeks due to her move from North Carolina to Tennessee and difficulty with insurance. She has a history of drug use involving benzodiazepines and THC. Once she found out that she was pregnant, which was early on, she stopped using anything. She has had no drug use, per her report, since early first

ABSTRACT Trisomy 18 is a common autosomal trisomy syndrome. It is due to either full or partial presence of an extra copy of chromosome 18. Its prevalence correlates positively with advanced maternal age. Affected infants usually exhibit a variable pattern of anomalies including growth restriction, marked psychomotor and cognitive disability and an array of physical findings including characteristic craniofacial features, clenched fists with overriding fingers, small fingernails, underdeveloped thumbs

Introduction The cell cycle is crucial to many mechanisms that exist in living things today such as the repairing of damaged cells, the growth of living things, and many others mechanisms. Within the cell cycle, there are sub-mechanisms that allow this process to perform its duty. There are two major growth phases, also called the G₁ and G₂ phases. When cells reach these two phases, they experience growth until they are large enough to continue to the next phase. After the first major growth phase

Recurrent implantation failure (RIF) and recurrent pregnancy loss (RPL) are the major problems faced by infertile couples undergoing in-vitro fertilization1.Early embryonic mortality is very high in humans, and it was analysed that the principal cause for failed pregnancy is an error of implantation2,3,4.The incidence of recurrent pregnancy loss should be approximately 1 in 300 pregnancies. The etiologies for RPL are parental chromosomal abnormalities, uterine anomalies, endocrine dysfunction, autoimmune

JENNY COSTE This is the case of Jenny Coste, 10 years old and was diagnosed with Acute Lymphoblastic Leukemia. She felt a sudden pain in her legs, was feeling sick and has shortness of breath. She undergoes intensive chemotherapy and have been in and out of the hospital for 18 months. She had a remission for a fleeting period, but unfortunately a relapse occurred. Her health being swiftly dropped despite assertive effort of treatment until her family decided to put her in palliative care. Acute

Roll: 10 Session: 2011-2012 Department of Genetic Engineering & Biotechnology University of Dhaka Date: 19th April, 2015 Klinefelter Syndrome Klinefelter’s Syndrome (KS) also known as 47, XXY is a sex chromosomal abnormality. It is a form of aneuploidy whereby the male patient has an extra X chromosome. The primary hallmark of the disease is male sexual sterility. The symptoms are sometimes subtle and only discovered late into adolescence. Some symptoms become prominent after puberty such as hypogonadism

Describe the processes of mitosis and meiosis in details and their functions 
 Introduction Cell division does not stop with the formation of the mature organism but continues in certain tissues throughout life. It is because cell cannot grow any larger. Besides, cell division is necessary for the repair and replacement of aged or dead cells. Moreover, it is necessary for the growth and reproduction. There are two distinct types of eukaryotic cell division: Mitosis and Meiosis. Mitosis leads to

We did have a full discussion with her regarding AMA issues and her risk for trisomy 21 as well as aneuploidy at term based on age alone. The fact that the ultrasound was completely negative decreases this risk somewhat. We did discuss various genetic testing options including amniocentesis with its risks and complications and pros and cons versus noninvasive

completed cytokinesis (Shi and king, 2005). The binucleate : mononucleate cell ratio may therefore prove to be an important biomarker for identifying individuals with a cytokinesis failure caused by higher-than-normal rates of aneuploidy , such as that observed in Down’s syndrome (Thomas et al.,2007;Thomas and

Genes are the basic hereditary units consisting of DNA sequences which code information for the synthesis of specific proteins. Phenotypic expression as well as the personality expression and behavioral patterns are also determined by these genes. Disorders caused by the abnormalities in an individual’s genome are known as genetic disorders which are either inherited or caused by mutation in the pre-existing genes (Shiel, 2010). Genetic disorders can be classified into four categories which are single-gene

In-Vitro fertilisation, commonly referred to as IVF is a method of fertilisation primarily used by people that are incapable of having children naturally. The word “vitro” stems from the Latin root “vitrum” meaning “glass” and is named as such because the actual fertilisation occurs under laboratory conditions, traditionally in a beaker, test tube or other such lab equipment. The process involves removing an ovum or ova from a woman and then suspending it in a liquid along with sperm in order to

Natural Selection Characteristic determination is that it is the system by which a living being that is most appropriate to its condition will survive and pass on its useful qualities in expanding numbers to the accompanying eras, while those life forms less suited to the earth will be disposed of. . “For example, some cheetahs can run faster than other cheetahs and will therefore be more likely to catch their prey. Organisms that blend into their background and remain hidden from their predators

Mechanism of meiotic recombination The Meiotic recombination is an integral part of the meiotic division in most eukaryotes. It can lead to either crossovers (reciprocal exchange of genetic material between homologous chromosomes), or non-crossovers (non-reciprocal exchange of the genetic material). In eukaryotes, only a small percentage of meiotic DSBs result in crossover products (Sung et al., 2003; Youds and Boulton, 2011). In contrast, repair of DSBs in the mitotic cells happen mostly through

For growth and development, every cell requires its full fledging machinery to duplicate, so for DNA as well. For initiation of replication requires energy and enzymes. DNA is double stranded helix which requires linear conformation for replication. So to help it out special enzymes and proteins bind to it. Topoisomerase cuts the DNA strand and made path for helicase to bind to DNA strand. Helicase plays part in unwinding of DNA helix so that to facilitate other replicative machinery to bind to DNA(Pope

SEMINAR REPORT OF PRENATEL DIAGNOSIS: TECHNIQUES AND APPLICATIONS Submitted to: Submitted by: Date: Centre for Human Genetics School of Health Science ACKNOWLEDGEMENTS In the course of present work it has been my privilege to receive help and assistance from many quarters. I take great pleasure in acknowledging here, my debt to them. I am deeply indebted to my Guide Dr. Preeti

awry with the arrangement. The chromosome number is decreased, increased by duplication, or the amount of whole groupings of chromosomes is incorrect. 1. Nondisjunction – failure to divide of paired homologous chromosomes during Meiosis I or II 2. Aneuploidy – decrease (monosomy) or increase (trisomy) of chromosomes 45 or 47 rather than the normal 46 Decrease in the number of chromosomes Increase in the number of chromosomes The most common aneuploidic disorder is Trisomy 21, or Down Syndrome. This

Homologous recombination (HR) can be explained as a process where DNA is exchanged or copied between two chromosomes or different regions of the same chromosome. The process requires homology between the exchanging DNA regions. Homologous recombination repairs DNA breaks, especially double stranded breaks (DSBs), stabilizes and repairs stalled forks. HR consists of a series of inter related pathways that function in repair of DNA breaks (Figure 4). Initially, stretches of single stranded DNA (ssDNA)