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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
Xeroderma Pigmentosum is a genetic disorder caused by a mutation in one of any seven genes. This genetic mutation is an autosomal recessive trait. This disease was discovered in 1874 by Hebra and Kaposi. People with this disease cannot have direct exposure to sunlight, or blisters on the skin may occur. There are only about 250 people in the world with this disease.
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.
Both genders can develop alopecia but the chances are slightly greater when you have a relative with this disease .in addition, alopecia occurs more often when the person has a family member with autoimmune disorders such as diabetes, lupus or thyroid disease. This is due to genetics that can trigger this autoimmune disease.
Birth Defect: Achondroplasia Sarah Smyth A genetic disease is a mutation caused by the absence of a gene or by products of a defective gene. ("Genetic Disease") ("What Are Genetic Disorders?") I chose to research Achondroplasia, because I thought that it was interesting. I’ve never really heard of this disease before, and I also wanted to do something different than the other kids.
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.
The first few years of babies life’s they will undergo rapid social, emotional, physical and cognitive development. Every child is an individual meaning not all children’s development happens in the same way or at the same time. Each child develops at their own pace reaching milestones at different times in their development. In general, child development progresses:
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
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
“If you think about the brain and the brain development if we don’t stimulate the brain then of course there is going to be lack of development.” (“Unruh”). Development is sempiternal in life, it moves through many stages into life such as learning to grasp a fork properly to grasping the thought of death. General development stages begin at birth and last till about age of 18, but the most important development stages start from birth and last till about six years of age. These early stages will affect how one will behave, interpret, and learn throughout the duration of one’s life. While bodily changes are rapidly occurring and the beginning of thought, opinion, and reason are just forming. It is important to understand as future parents or caregivers how and when their child, even if premature, is developing socially, cognitively, or physically.
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.
List the embryonic germ layers that the epidermis and dermis are derived from (be specific for the dermis). (2 points)
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.
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
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.