Turner’s Syndrome Turner’s syndrome is a genetic conditions that affects the female’s sex chromosome. In (http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001417/) Turner’s syndrome occurs when cells are missing all or part of an X chromosome. It’s common of the female patient to only have one X chromosome. Although, some individuals may have two X chromosomes but one is defective. It is thought that an estimated 1 out of 2000-2500 females suffer from this genetic condition worldwide but it’s usually
severe lack of muscle control, small head size, and unusual hand movements. A woman with a mutation in her MECP2 gene, has a 50% risk with any pregnancy to pass on her X chromosome with the mutation. It is not common for women with Rett syndrome to have children because the severity of the disorder. The mutated gene on the X chromosome that is responsible for causing Rett syndrome is the methyl CpG-binding protein 2, MECP2 gene. The gene makes a protein that controls other genes. When a mutation occurs
the syndrome was due to lack of sex chromosome material. Turner's Syndrome is a rare chromosomal disorder that affects one in approximately 2,500 females. Females normally have two X-chromosomes. However, in those with Turner's Syndrome, one X chromosome is absent or is damaged. OTHER NAMES Depending on the doctor, Turner's Syndrome may be diagnosed with one of the following alternative names: 45 - X Syndrome, Bonnevie-Ulrich Syndrome, Chromosome X, Monosomy X, Morgagni- Turner-Albright Syndrome
difference between the X and Y chromosome. The X and Y chromosome are those that will determine the gender of an offspring. The egg of a female contains two X chromosomes, and each sperm from the male contains either an X or a Y. If the sperm that inseminates the egg contains a Y chromosome the egg will mature into a male, if the sperm that inseminates the egg contains an X, the egg will mature into a female. The X chromosome is approximately three times as large as the Y chromosome. Early methods
lacking wings, also known as an apterous mutation. In this experiment, we will determine whether this mutation is carried on an autosomal chromosome or on a sex chromosome. The data for this experiment will be determined statistically with the aid of a chi-square. If the trait is autosomal, then it will be able to be passed to the next generation on an autosomal chromosome, meaning that there should be an equal amount of male and
retardation. Fragile X syndrome, Down syndrome, Turners syndrome and many other syndromes result from a mutation of a chromosome, an extra chromosome, or too few chromosomes. Discovered in 1991, Fragile X syndrome is considered a fairly new genetic disorder. According to The Fragile X Association, Fragile X Syndrome (FXS) is caused by the expansion or lengthening of the FMR1 gene on the X chromosome, known as a gene mutation. Fragile X occurs more in males than females. “Fragile X syndrome occurs in
Triple-X Syndrome (Trisomy X) Introduction Genetic disorders impact thousands of people every year. Triple-X Syndrome (Trisomy X) is a genetic disorder in females that have three X chromosomes instead of the regular two X chromosomes. Trisomy X was discovered by Patricia A. Jacobs back in 1959, and is named after the mutation of an extra third X chromosome. Trisomy X’s symptoms are diagnosed by taking certain tests. Trisomy X is not inherited by the parents. Treatment will vary depending on
when cells are divided to foster genetic diversity, it is an extremely common conditions in men. Klinefelter syndrome is a genetic disorder caused by an additional x chromosome in men, affecting their sexual development and leading to learning disabilities. Klinefelter syndrome is a genetic disorder caused by an extra X chromosome that leads to disabilities
KLINEFELTER SYNDROME Klinefelter Syndrome is a syndrome in which a person has an additional X- chromosome. It is not life consuming, but rather people who have this syndrome can live perfectly normal lives proper treatment and care. If precautions are taken early on. Dr. Harry Klinefelter and his co-workers at Massachusetts center hospital in Boston in 1942 first identified the syndrome. These men were of the first to publish a report on this syndrome in its whole, so as to not leave any questions
born with two sets of chromosomes. 23 chromosomes are from the mother and 23 chromosomes from the father, creating a total of 46 chromosomes for the child. But for some children born today, they are born with chromosome abnormalities. Chromosome abnormalities involve sex chromosomes and are gender specific (O’Neil). With today’s technology and past studies, we are able to determine chromosome abnormalities and the syndromes that are formed by these abnormalities. Chromosome abnormalities happen
Detailed Project Presentation / Summary Description of Project: Smith – Magenis syndrome Smith – Magenis syndrome (SMS) is a genetic disorder, mostly associated with a deletion of portions of chromosome 17, specifically the loss of one gene: RAI1. This condition affects 1 in 25,000 individuals worldwide (Genetic Home Reference, 2017). Smith -Magenis syndrome is a multisystem condition presenting challenges with behavior, sleep disturbances, intellectual disabilities, organ defects, musculoskeletal
is nevertheless on that can be controlled, and to an extent, managed. This syndrome is relatively easy to diagnose, as the telltale sign that reveals the presence of Klinefelter is having two X chromosomes (ex. XXY), as opposed to a single X chromosome (ex. XY). Overall, this brings a person’s chromosome number to forty-seven, as opposed to the normal forty-six. Under a light microscope, a diagnosis can be made and delivered to the patient extremely quickly. Taking on the role of a doctor and
half the number of chromosomes of the parent cell which are called haploids. Meiosis produces our sex cells or gametes which are (eggs in females and sperm in males). Meiosis can be divided into nine stages. These are divided between the first time the cell divides (meiosis I) and the second time it divides (meiosis II): Meiosis I 1. Interphase: First, the DNA in the cell is copied resulting in two identical full sets of chromosomes.
Turner’s Syndrome, which is one of the most common chromosomal abnormalities, is defined as “a syndrome with a chromosome count of 45 and only one X chromosome.” Turner’s was first described in 1938. Henry Turner, an endocrinologist from Oklahoma City, was the first to discover this syndrome. He was curious about why seven of his female patients, six adolescents and one adult, who he was treating for dwarfism and lack of development, were not responding to the treatments. He described the women as
two “X” chromosomes and men have one “X” and one “Y” chromosome. The X and Y chromosomes determine a person’s sex. Chromosomes contain the set of instructions to create living being. The male Y chromosome and female X chromosome are different in size and vary in the number of working genes. The X chromosome can contain more than 1,000 working genes, while the Y has less than 100. There have been several studies done on the inactive X chromosome in women. "Our study shows that the inactive X in women
Emily Zerona Mrs. Driscoll Honors Biology 14 May 2014 Fragile X Syndrome Fragile X Syndrome is a genetic disorder that causes individuals, mostly men, to develop developmental problems and cognitive impairment. Although men are mostly affected by this disorder, it can affect women as well. Approximately one in four thousand males are affected by Fragile X while only one in eight thousand women are affected (Fragile X syndrome, 2012). Fragile X causes a variety of symptoms such as possible ADD, anxiety
Sex determination is decided by the 23rd pair of chromosomes commonly known as the sex chromosomes. Males have XY as their 23rd pair and females have XX. A female gamete, the ovum, can only receive only the X chromosome and the male gamete, the spermatozoon can receive either the X or the Y chromosome when meiosis occurs. Therefore the male sperm is responsible for the sex determination of the baby. Example: Figure 1: a Punnet square showing that there is an equal opportunity for a foetus to
Autism is a genetic disorder that typically appears during the first three years of life. There has been five chromosomes thought to be directly connected to autism. The disorder is a complex developmental disability. Autism is the result of a neurological disorder that has an effect on normal brain functions, affecting development of the person’s communication and social interaction skills. There are many different ways to classify autism; by difficulties in social interaction, verbal and non-verbal
immunodeficiency). More people tend to have X-linked SCID. Males only have one X chromosome and one Y chromosome. Mothers would pass their X chromosomes to their sons. In X-linked SCID, a mother with a defective X chromosome for SCID would pass this gene onto her son, since he only has one X chromosome (Severe combined immunodeficiency). Thus, males have a higher chance of getting X-linked SCID than females (females have two X chromosomes, so if only one of the X chromosomes has the defective copy of the SCID
experience of learning how to be selfless. Finally, scientists working in twin studies also fo... ... middle of paper ... ...mpairments. Nearly all people with Down syndrome have some kind of serious impairment. Down syndrome is caused by an extra chromosome 21. It also causes physical problems—such as a deformed face, heart effects, and hearing problems, and intellectual impairment. While the severity of the deficiency various from person to person, it is always there (“Genes and Development”).