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Various genetic disorders
Various genetic disorders
Various genetic disorders
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What happens during the 9 months of embryonic development, can and will determine how the rest of a child’s life will go. A change or mutation can alter the baby’s development in the womb. No, I’m not talking about a Teenage Mutant Ninja Turtle, type of mutation. A mutation is the changing of the structure of a gene, caused by the alteration of single base units in DNA, or the deletion, insertion, or rearrangement of larger sections of genes or chromosomes. Mutations can cause different outcomes. Depending on how much the gene changes.
Ectodermal dysplasia,also known as E.D., is one of the many results of a mutation. ED is caused by an abnormal change in the TP63 Gene. Ectodermal Dysplasia can be inherited. If the ectodermal dysplasia is inherited in an autosomal dominant manner, the parent who is affected has a single copy of the abnormal gene and may pass it onto children. The child has a 50% chance of receiving it. There are over 180 ectodermal dysplasia recognized and named based on the specific combination symptoms shown in affected individuals. Each ectodermal dysplasia has its own combination of symptoms. When physicians consider an ectodermal dysplasia diagnosis, they examine your hair, nails, skin, sweat glands, and teeth.
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Polydactyly results if there’s an irregularity in the process of gestation. It’s probably the most common abnormality of development found at birth, it’s reported in about 2 out of every 1,000 children. The most common form is having a small, soft, extra finger that contains no bone. If the child or person that has it it sti8ll young, the finger can easily be removed. The physician will tie a suture tightly around the base, then cut it
Once altered, the baby will have no say in how its cells are used, or traits they wish to keep but no longer will have the chance too. Some designer babies are created to help others through transplants. Even though the intention may be decent, it is still taking away the child's chance to have a choice in his body. Certain transplants are painful, such as a bone marrow transplant, and creating the child to be used as a donor could possibly put him through involuntary pain.
Twin studies have been used to distinguish between genetic and environmental factors for many disorders in the general population including ectodermal dysplasia, Ellis-van Creveld, and anencephaly. This review focuses on genetic disorders affecting monozygotic, dizygotic, and conjoined twins to gain a better understanding of them. Many studies focus on twins because they have a nearly identical genome, which eliminates environmental factors. In case studies, the concordance rates in monozygotic twins have supported that certain disorders were caused by genetics and not the environment. The discordant values in twins will also be evaluated briefly. Twinning studies have also shown linkages between specific disorders and the genes responsible for them. Knowing the location of these genes allows patients to be treated quickly and efficiently. This paper will discuss the possible causes of twinning and the various methods of identifying abnormalities in twins. These methods also allow preventive measures against the rise of birth defects during prenatal development. Epigenetics in twins is also viewed through the perspective of effects on them. Treatments for genetic disorders in twins are reviewed, ranging from the restoration of malformed teeth to the separation of conjoined twins. Support groups for twins in treatment, and their families are also briefly reviewed.
Xeroderma Pigmentosum, or XP, is caused by a mutation in one or more of any seven genes. The first type of mutation that may occur is XPA, caused by a mutation of 9q22.3. This means that mutation occurred in the ninth chromosome on the long arm, q, 22.3 map units from the centromere, or middle, of the chromosome....
The first days and weeks after conception are critical for fetus body formation. The most extensive transformation of life occurs before birth. The fetal period goes through major changes. During the third month male or female sexual organs begin to develop and is visible through ultrasound. During months 4-6, the baby’s heartbeat becomes stronger. The digestive and excretory systems begin to develop. Body parts such as the fingernails, toenails, and buds of teeth begin to form and hair grows. Brain development occurs in every prenatal month, but the first three months are crucial. The central nervous system becomes responsive during middle of the women 's pregnancy, and begins to regulate body functions such as breathing and sucking.
...ve Achondroplasia. Clinical laboratories have available testing for the FGFR3 gene. When a child is diagnosed with Achondroplasia, parents should look for changes in bowel or bladder function, muscle weakness, and asymmetrical reflexes or respiratory problems. Many babies with Achondroplasia have troubles with repeating ear infections. Some may need ear tubes, which are placed into the ear to allow air in the middle ear to help lower the chances of ear infections. Without these tubes, the baby could lose its hearing. The spinal cord can also get compressed, making the upper airway obstructed, and increasing the risk of death for the baby. People with Achondroplasia also have breathing problems, during this breathing either stops or slows down for short amounts of time. ("GeneFacts")
Polydactyly is the most commonly observed congenital digital anomaly of the hands and feet appearing in 1 in every 500 live births. The condition is characterized by an abnormal amount of digits per hand in which the extra digits may develop bilaterally, or it may occur on both or just one hand, foot, or some other combination. Usually the extra digits that develop are either small pieces of soft tissue or fully formed in appearance. It is noted that in around 80% to 90% of cases involve the peripheral digits, although it is possible that all digits may be affected. Depending on the location of the extra digit, polydactyly can be further classified into three types: pre-, post-, and central axial forms. Polydactyly can occur as an isolated disorder (non-syndromic) or alongside other symptoms or disease. Isolated polydactyly is typically caused by the inheritance of an autosomal dominant gene mutation, meaning the cause is not due to a multifactorial trait. However, most cases of polydactylism are linked to specific syndromes that cause congenital anomalies through a variety of gene mutations.
List the embryonic germ layers that the epidermis and dermis are derived from (be specific for the dermis). (2 points)
The first person in the video that had a genetic disorder was the model. She had epidermal dysplasia. Some of the symptoms are that her hair grows
This is the embryonic period, which occurs three weeks after conception and lasts until the eighth week. During the fourth week, the shape of the head begins to form, along with the formation of the eyes, mouth, nose, and mouth. Through the fifth and eighth week the lower body develops, as the legs and arms appear. After the embryonic stage, the fetal stage begins, which is during the ninth week through birth, where the fetus has a physical appearance distinctive to human features compared to when it was an embryo. At birth, one of the earliest signs of motor development is its first reflexes as a newborn coming out the mother’s womb. Newborns reflexes are not learned, rather they are born with these reflexes and act instinctively to protect itself in its first few months of life. At this point both the physical and motor development is starting to develop naturally at the same
For this genetic disorder assignment, I chose Marfan Syndrome, which is a mutation in your connective tissue. Connective tissue holds our body together by holding the blood where it is suppose to be, the organs in place and keep our tissue in place. This connective tissue also helps you grow in height and go through the stages you need to. The disorder results in abnormally long and thin digits in your genes and also frequently in optical and cardiovascular defects. Our connective tissue is made up of many proteins and the protein that affects Marfan Syndrome would be fibrillin-1, which in this disorder is a defect in the body on how to make this protein. The Transforming Growth Factor Beta (TBF-β) protein takes
It is can be inherited as a autosomal recessive trait, which means two copies of an abnormal gene has to be present in order for the disease or trait to occur.
Developing Through the life span Developmental Issues, prenatal development And the Newborn Prenatal Development occurs from the inner body to the outer body. Which pretty much means that children Development also starts from top to bottom. Children need to control their head first, then they will gain control over their legs and feet. usually develop or gain control over their arms before they develop control over their fingers.
Developmental Psychology is an area which studies how we as humans change over the period of our life span. The majority of the focus is broken into three categories: cognitive, physical and social change. The creation of who we are today comes down to the everlasting debate of nature versus nurture. This ongoing debate of what makes us who we are and which one is the driving force in development may be so simple that it’s complex. Rather than it being a conflict of nature “versus” nurture, it is very well possible both play an equal part in the development of us as humans. In the beginning, we start off as single cell in the form of a zygote. In that moment, where the DNA begin to form and the first seconds of life take place, the zygote is already experiencing interaction with the womb. In the process of determining why we are who are it is better to look more at the interactions of nature and nurture, analyzing how both have shaped us.
A baby’s life helps to form and shape the future for that child; this goes the same for me. My birth, my sign, and my name, all relate to the way I live and act today. Many people may not see this connection for themselves, but it takes a little bit of research and thinking to come to realize why people are the way they are. Every day and every action that a child experiences can influence their actions as an adult.
My personal physical development in the stage of infancy was below average. I was born three weeks before my due date, but suffered none of the negative effects