Aneuploidy

deficits are observed primarily in cognitive and verbal abilities. (64) Compared with their classmates certain abnormal physical and psychological characteristics of the patients become obvious and they may become socially alienated. Higher-grade aneuploidy of the sex-chromosomes (48,XXXY, 48,XXYY and 49,XXXXY) is associated with mild mental retardation. In comparison clinical symptoms is very few in Klinefelter patients with chromosome mosaics (47,XXY/46,XY).

Thomas is a 13-year old Caucasian male who presents to the pediatric department with his mom to discuss behavioral concerns. Thomas’s mother reports that his teachers have become concerned about his grades and he suddenly seems uninterested in activities he used to enjoy. After learning about Thomas’s history, seeing the physical assessment documentation and the laboratory data, I conclude that Thomas has Klinefelter Syndrome. The pathophysiology topics to be covered concerning Klinefelter Syndrome

Approximately three to four percent of babies born every year are born with some kind of genetic disorder. A genetic disorder is described as an illness caused by an error in one’s genome, and is usually hereditary. To understand how these errors occur, one must first understand the basic concept of genes. Genes are the basic units of heredity and are made up of pieces of DNA that instruct the cell how to make specific proteins. Humans are estimated to have about 20,000 to 30,000 genes in their genome

Down syndrome is a congenital disorder resulting from a chromosome defect. Down syndrome affects people of all ages, race, and economic status. It causes an increased risk of health problems and developmental issues. Researchers have found that centuries ago there were people who seemed to depict the same features of those with Down syndrome today. In 1866, John Langdon Down was the first to identify Down syndrome as a disorder. Before he described it as a disorder, those with Down syndrome

Chromosome aneuploidies are common genetic defects that can lead to diseases such as Down syndrome. Current methods of aneuploidy testing exist, primarily in the form of chorionic villus sampling or amniocentesis. Although precise, these tests are invasive and may result in intrauterine infection and miscarriage. Of recent, fetal genetic material, found in maternal blood, has been used to screen for fetal aneuploidy in high-risk women. This allows a potentially safe and easy means for detecting

which this assignment would not be possible. Shruti Dhameja CONTENTS SR. NO. TOPIC 1 INTRODUCTION 2 CHROMOSOMAL ABBERATIONS 3 STRUCTURAL ABBERATIONS ⦁ DELETION ⦁ DUPLICATION ⦁ TRANSLOCATION ⦁ INVERSION 4 NUMERICAL ABBERATIONS ⦁ EUPLOIDY ⦁ ANEUPLOIDY 5 DOWN SYNDROME ⦁ DEFINITION ⦁ DIAGNOSIS ⦁ SYMPTOMS Introduction Chromosomal aberrations

promotes breast growth. To help the language and learning symptoms, speech and language therapy can be provided. Physical and occupational therapy may be helpful in rebuilding muscle and coordination. (Klinefelter syndrome and other sex chromosomal aneuploidies, October 2006) Depending on the severity of the syndrome, you can live a normal life. Most men get jobs, form relationships and have a normal life span. (Your Hormones, 2014) Life expectancy is normal unless in extreme cases 2.1 years. (Alexandra

Patau Syndrome, otherwise known as T13 is a very rare and lethal genetic disorder in which a person has three copies of chromosome 13 instead of two. T13 is characterized by the presence of an assortment of heart and brain malformation in newborns. Children with the disease are often born with multiple birth defects that are normally associated with T13 but not limited to it, including small eyes, undescended testicles, cleft lip/palate, and they consistently exhibit signs of mental deficiency and/or

A chromosomal disorder is caused by an abundance or reduction of genes on the chromosomes. This type of disorder may also be caused by structural changes within these chromosomes; this is known as an aneuploidy (Porth, 2015). The most common chromosomal disorder is Down syndrome of which there are three types: complete trisomy 21, translocation, and mosaicism (Porth, 2015). Since its first identification in 1866, researchers have become more knowledgeable about the etiology of Down syndrome. When

in which there is a problem with cell division called meiotic disjunction. This disease is commonly associated with the well known Downs Syndrome which is also known as Trisomy 21. A disease with an unnatural number of chromosomes are is called a aneuploidy. Edwards Syndrome occurs when a child is born with an extra #18 chromosome. This occurs in about 1 in 2500 pregnancies and 1 in 6000 births. There is a high mortality rate for Edwards Syndrome, half of all children who are carried to term will be