Wait a second!
More handpicked essays just for you.
More handpicked essays just for you.
Case study in trisomy 21
Vierfingerfurche trisomie 21
Don’t take our word for it - see why 10 million students trust us with their essay needs.
Recommended: Case study in trisomy 21
Trisomy 21 is a chromosomal disorder. “It is caused by an extra chromosome 21.” (http://www.geneticcounselling.eu) This is due to nondisjunction. During meiosis a complication occurs which results in an extra chromosome. An offspring does not inherit Trisomy 21 (Down Syndrome), but other forms of the disorder can be passed along from a parent to a child. Symptoms include: Poor muscle tone- muscles are loose, typically not as strong, Smaller features- head, ears, and mouth are smaller, The face and nose are flat, Brushfield spots- colored part of the eye has noticeable white spots, Neck is shorter, Hands are noticeably different- hands are wide and short with short fingers, Eyes slant upward, Crease along the palm of the hand- deep, single crease
ACHONDROPLASIA is known as being undersized, or less than 50in. in height. Having short limbs, a normal sized trunk, large head with a depressed nasal bridge and small face. This is a result of a disease in the thyroid gland. It can also be caused by Down syndrome or absorption, a cartilaginous tissue during the fetal stage. Hypochondroplasia, a mild form of dwarfism. Spinal tuberculosis and the deficiency of the pituitary gland secretions. Treatment with thyroxin or thyroid extract early in childhood results in normal growth and development. Somatrophin, also known as the human growth hormone is secreted by the anterior pituitary. Respiratory problems start to occur in infants. Symptoms of problems include snoring and sleeping with neck in a hyperextended condition. The limbs have rhizometic shortening. The legs are straight in infantry but when a child. He begins walking they develop a knock-knee position. When the child continues to walk legs begin to have a bowed-leg look. Occasionally, these curvatures are fixed. As the child continues to walk the kyphosis disappears and the back assumes a lordotic posture. If a delay in child’s walking occurs, the spine should be monitored closely for signs of gibbous formation. In infancy, hypercephalus can occur. Infants head circumference should be monitored close . Monthly checks of head circumference must be monitored. Radiologic studies are indicated if head circumference raises to disproportionately, or if symptoms of hydrocephalus. Child’s pediatrician should have a copy of head circumference curves for children with achondroplasia. Radiologic procedures for dwarfism include head ultrasound, C-T scan, or MRI of the head. If intervention is necessary, a ventriculoperitoneal shunt is placed relieving the pressure. Infants should also be monitored for foramen magnum compression. It is the opening at the base of the skull in which the brain stem and cervical spinal cord exit. When you have achondroplasia the foramen magnum is compressing the brain stem and spinal cord. Symptoms of narrowing include apnea the cessation of breathing and cervical myleopathy. C-T scans and MRI scans are done to examine the size of the infectious foramen magnum. A neurosurgical procedure called a foramen magnum decompression is executed to alarge foramen and alleviate further symptoms. Adolescents are at risk of getting lumbosacral spinal stenosis. The lumber spinal cord or nerve roots become compressed producing nerosurgical symptoms. Initial symptoms including weakness, tingling, and pain of the legs. Pain usually alleviated by assuming a squatting position.
Many things have impacted both the Science and Medical fields of study. Electrophoresis and DNA Sequencing are two of these things. Together they have simultaneously impacted both of these fields. On one hand, there is Electrophoresis. Electrophoresis is a specific method of separating molecules by their size through the application of an electric field. It causes molecules to migrate at a rate and distance dependent on their size. On the other hand, there is DNA Sequencing. DNA Sequencing is a technique used to determine the exact sequence of bases
Nonspeech signs associated with hypokinetic dysarthria may include characteristics dealing with the face, eyes, hands, arms, and trunk. The individual may have an expressionless look to their face as well as weakness with gestures in the hands, arms, and face that would normally match the person’s prosody when speaking. Overall, their social interaction with others can be emotionless. Eye blinking occurs less frequently than normal and their head gaze does not match where their eyes are looking. These patients swallow infrequently which leads to drooling. A tremor may be present in the jaw, lips, and tongue as well as limited movement during speech even though strength of these structures is often normal.
Trisomy 13 or Patau Syndrome” Trisomy 13 is a genetic disorder found in babies. It is also called Patau syndrome in honor of the physician who first described it, Krause Palau. Trisomy 13 is a genetic disorder in which there is three copies of chromosomes on Chromosome 13. Patau first described the syndrome and its involvement with trisomy in 1960. It is sometimes called Bartholin-Patau syndrome, named in part for Thomas Bartholin, a French physician who described an infant with the syndrome in 1656.
Physical signs and symptoms include slow body movements, alternating eating patterns, unexplained aches or pains, and sleeping disturbances.
lip, skin folds at the corners of the eyes, indistinct groove on the upper lip, and an
Sexual reproduction is that the union of male and feminine gametes to create a fertilised egg or zygote. The ensuing offspring inherit one-half their traits from every parent. Consequently, they 're not genetically similar to either parent or siblings, except within the case of identical twins. As theorised by Mendel, adults are diploid, meaning as 2N, having 2 alleles offered to code for one attribute. The gametes should be haploid, signified by N, containing just one allele in order that once 2 haploid gametes mix, they manufacture a traditional diploid individual. The method where haploid sex cells are created from diploid parents is known as meiosis, and it happens solely within the reproductive organs.
Cell division is extremely important; cells must divide in order to maintain an efficient volume to surface area ratio, allow organisms to grow and develop, and repair any damaged tissue. Cells are able to do all this through two processes: meiosis and mitosis. Without these processes, humans would not be able to do many of the basic functions we are so accustomed to, including growing, healing even the smallest cuts, and even reproducing! However, meiosis and mitosis, although both procedures for cell division, are very different.
Most cases of Down syndrome are not inherited. When the condition is caused by trisomy 21, the chromosomal abnormality occurs as a random event during the formation of reproductive cells in a parent. The abnormality usually occurs in egg cells, but it occasionally occurs in sperm cells. An error in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes. For example, an egg or sperm cell may gain an extra copy of chromosome 21. If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have an extra chromosome 21 in each of the body's cells.
First describe in 1960, Trisomy 18, also known as Edwards syndrome, is a severe genetic disorder resulting from meiotic disjunction, which is an error in cell division similar to Down syndrome. Meaning that extra material from chromosome 18 is made, creating three copies instead of the normal two, this abnormality is a random occurrence and is
Down syndrome, a genetic disorder, is the most common cause for intellectual disabilities, occurring at an average of one out of every 700 births (CDS, 2006). This disorder is caused by the extra chromosome 21 (also known as Trisomy 21). According to Hassold and Sherman (2002), the probability of giving birth to a child with DS is not linked to any race, ethnicity, socioeconomic status or geographic location. Maternal age seems to be the only etiological factor that may cause DS.
Precise chromosomal DNA replication during S phase of the cell cycle is a crucial factor in the proper maintenance of the genome from generation to generation. The current “once-per-cell-cycle” model of eukaryotic chromosome duplication describes a highly coordinated process by which temporally regulated replicon clusters are sequentially activated and subsequently united to form two semi-conserved copies of the genome. Replicon clusters, or replication domains, are comprised of individual replication units that are synchronously activated at predetermined points during S phase. Bi-directional replication within each replicon is initiated at periodic AT-rich origins along each chromosome. Origins are not characterized by any specific nucleotide sequence, but rather the spatial arrangement of origin replication complexes (ORCs). Given the duration of the S phase and replication fork rate, adjacent origins must be appropriately spaced to ensure the complete replication of each replicon. Chromatin arrangement by the nuclear matrix may be the underpinning factor responsible for ORC positioning. The six subunit ORC binds to origins of replication in an ATP-dependent manner during late telophase and early G1. In yeast, each replication domain simply contains a single ORC binding site. However, more complex origins are characterized by an initiation zone where DNA synthesis may begin at numerous locations. A single round of DNA synthesis at each activated origin is achieved by “lic...
DNA stands for deoxyribonucleic acid which is the structure of every human and animal. DNA is in strands that are paired, A with T and C with G. the place with the least DNA is the mitochondria, which is called “mtDNA”, and the most in the nucleus which is “nuclear DNA”
DNA repair pathways are a major factor in genomic stability because they help to repair the damage done to the DNA. If DNA damage is not fixed it can expose individuals to an increased risk of tumorigenesis. There are multiple pathways within the cell that respond to these errors that can be made. These pathways work in such a way that they recruit DNA repair processes in hopes of fixing the issue and if the issue is not resolved apoptosis will be initiated. DNA damage response includes mediators, transducers, and effector proteins. These DNA repair pathways can include nucleotide excision repair, base excision repair, mismatch repair, and DNA double-strand break repair. Nucleotide excision repair involves multiple proteins that replace nucleotides that are modified with
A cell is the smallest functional unit of an organism, that has a structure. The parts of a cell vary in sizes, functions, and shapes. Cells are usually microscopic and are either eukaryotic or prokaryotic. Eukaryotic cells contain many organelles surrounded by a cellular membrane. Animal and plant cells are eukaryotic. Prokaryotic cells do not have a nucleus and many of the other organelles found in eukaryotic cells. Single cell bacteria are an example of a prokaryotic cell. In our cell project we chose twenty seven organelles of an animal eukaryotic cell. Lastly, we chose to make a walled medieval city to represent our cell.