Preview

Baller Gerold Syndrome Essay

Good Essays
Open Document
Open Document
723 Words
Grammar
Grammar
Plagiarism
Plagiarism
Writing
Writing
Score
Score
Baller Gerold Syndrome Essay
Baller-Gerold Syndrome is a genetic disorder that causes major physical debilitations and can cause development delays, or even at times learning or behavioural problems. It is a disease that is caused by a gene mutation, and at times the environment (NORD, 2006). The gene that is affected RECQL4, in one of the autosomal chromosomes (Genetics Home Reference, N.D). It causes changes to the appearance, of the person who unfortunately inherited the trait, in ways that they have deformed or disfigured body parts. Example of this would be abnormal shape of the skull and, bulging eyes with shallow eye sockets. The disease got its name from the two scientists who were able to describe what the deadly disease actually was (Dorland, 2011). The RECQL4 …show more content…
In clinical testing they might conduct a sequence analysis which is the the process of subjecting a DNA, RNA or peptide sequence to any of a wide range of analytical methods to understand its features, function, structure, or evolution (Maldergem, Lionel Van, June-7-2011). Prenatal precautions are also taken if any suspicion of the trait being handed down to you is assumed. They might use one of the three testing methods which are: molecular genetic testing, ultrasound examination, or Preimplantation genetic diagnosis (Maldergem, Lionel Van, …show more content…
They might also conduct surgery in order to try and relieve some of the pressure from the skull. This procedure has proven more successful for the younger patients (NORD, October-30-2006). Normally when the diagnosis is made the patient is recommended to surgery immediately. Operation on the younger children age of six months, is more common, to repair the skull bones; pollicization of the index finger as needed to create a functional grasp. The worst things that can occur if surgery is not performed is developmental delays,learning and behavioral problems, or vision problems ( Boston Children's Hospital.

You May Also Find These Documents Helpful

  • Satisfactory Essays

    Cystic Fibrosis

    • 336 Words
    • 2 Pages

    Question 2: The physician requested genetic testing after the infant tested positive for the sweat test. The sweat test is used to help diagnose cystic fibrosis. This test measures the amount of chloride in the sweat. If one has cystic fibrosis, the amount of chloride is greater, approx. 2-5 times more than normal. And it's a very common procedure done to determine cystic fibrosis. Now, it comes down to the genetic testing because cystic fibrosis is a gene mutation. Genetic carrier testing can be used to tell if a person carries one or more mutations of the CF gene and how many copies of each mutation.…

    • 336 Words
    • 2 Pages
    Satisfactory Essays
  • Good Essays

    The severity of Spina Bifida depends on what treatment options parents should consider. An infant born with Meningomyelocele should have surgery within the first couple of days after birth. Infants born with Meningocele may have surgery but often it is not required. Spina Bifida Occulta…

    • 527 Words
    • 3 Pages
    Good Essays
  • Good Essays

    Genetic testing is offered to families who believe they may have the defective gene that causes MSUD for future pregnancies. This DNA testing isn’t necessary to diagnose the child. A prenatal diagnosis involves testing the amniotic fluid surrounding the baby in the womb. They test for enzyme activity in cultured aminocytes or chorion villus cells that are rich in stem cells or mutation analysis. Newborns are screened by a blood sample taken from the heel and analyzed for high leucine levels. A urine amino acid test will reveal signs of ketosis, a high level of ketone bodies and acidosis, an excess amount of acid in the…

    • 982 Words
    • 4 Pages
    Good Essays
  • Good Essays

    Tay Sachs Research Paper

    • 1245 Words
    • 5 Pages

    Genetic testing can also be performed on parents before they conceive a child to determine whether they are carriers of the disease. This would be especially important if both parents were from high-risk populations to prevent families from going through this horrible experience.…

    • 1245 Words
    • 5 Pages
    Good Essays
  • Good Essays

    Tay Sachs Disease Essay

    • 853 Words
    • 4 Pages

    It is caused by the presence of the homozygous recessive gene on chromosome 15 that codes for the production of hexosaminidase-A (Hex-A). Since the body has no HexA, a fatty substance is allowed build up abnormally in nerve cells, which eventually damages the cells and the brain. When a child is two years old, they will suffer seizures and degrading mental function. Their mental abilities continue to worsen to a point of paralyses and blindness, and death comes around age five.…

    • 853 Words
    • 4 Pages
    Good Essays
  • Satisfactory Essays

    This condition can be tested for before a baby is born during an ultrasound (a scanning of inside the stomach of a pregnant woman). While checking the baby or fetus during an ultrasound, the…

    • 432 Words
    • 2 Pages
    Satisfactory Essays
  • Good Essays

    This disease can be diagnosed at birth and testing is available to identify whether the person…

    • 631 Words
    • 3 Pages
    Good Essays
  • Powerful Essays

    This final paper will discuss the ongoing debate of genetic/prenatal testing. Procedures for genetic/prenatal testing have been available since the early 1970's (Press, 2008, pp. 73-78). Genetic testing identifies abnormalities or changes in the chromosomes and genes. This type of testing is used to confirm or deny a suspected genetic condition or used to predict a person's chances of developing or passing on a certain disorder (Grant, 2000). Once the woman wants to go ahead with the genetic testing, a primary care doctor or genetic specialist places an order for the test. Genetic testing is often done as part of a genetic consultation (Press, 2008, pp. 73-78). It is very important that the patient knows every aspect of the procedure including…

    • 1673 Words
    • 7 Pages
    Powerful Essays
  • Good Essays

    My disorder is Birt Hogg Dubes Syndrome. Birt Hogg Dubes Syndrome is a rare disorder that effects the skin and lungs and increases the risk of some types of tumors. These tumors are painful and very difficult and almost impossible to get rid of. The main cause of this disorder is inheritance of a dominant gene pattern resulting in a gene mutation. The symptoms of this disorder are bumpy like tumors on your skin and lungs.…

    • 365 Words
    • 2 Pages
    Good Essays
  • Good Essays

    Since the test involves taking only a small blood sample, where a person’s DNA can be found, these tests have a minimal health risk. Genetic testing was initially used in pregnancies to test for diseases like Down's Syndrome and other genetic disorders (“What are the...”). However, thanks to more recent improvements, genetic testing has come to display several weaknesses and strengths. The genes that can be obtained from infants can notify parents of possible physical deficiencies, while others may show physical advantages (Stein).…

    • 478 Words
    • 2 Pages
    Good Essays
  • Good Essays

    Genetic testing, aka DNA testing, allows doctors to check if there are any possibilities to inherit diseases, and can also be used to determine a person's ancestry or biological relationship between people. It is important to understand the background and implications behind genetic testing as testing may be able to identify the odds of have of having a child with a genetic disease, but it can also result in miscarriage. The test often cannot determine if the child will show symptoms of a disease, how severe the symptoms will be, or whether the disease will progress over time. Another thing to take into consideration is the absence of treatment strategies…

    • 714 Words
    • 3 Pages
    Good Essays
  • Powerful Essays

    A Right to Her Genes

    • 1436 Words
    • 6 Pages

    The doctor suggested Michelle gather more information about her family tree and then come back and he would contact a genetic counselor about the possibility of genetic testing.…

    • 1436 Words
    • 6 Pages
    Powerful Essays
  • Powerful Essays

    Regardless of whether the diagnosis is made prenatally or postnatally which is after birth, the process is still the same. The process in which Edward’s syndrome is detected is when a sample of the baby’s DNA is extracted from a blood sample. The baby’s DNA may also be extracted from other bodily cells or tissue. The DNA extracted is then cultured to examine a picture of the chromosomes called a karyotype. A karyotype is a picture of a person’s chromosomes. In order to get this picture, the chromosomes are isolated, stained, and examined under the microscope. Most often, this process is done using the chromosomes in the white blood cells. A picture of the chromosomes is taken through the microscope. The visibility of an extra eighteenth chromosome confirms a Trisomy 18…

    • 1456 Words
    • 6 Pages
    Powerful Essays
  • Good Essays

    Lung Syndrome

    • 1099 Words
    • 5 Pages

    With this syndrome there are a few exams or tests you can do such as :…

    • 1099 Words
    • 5 Pages
    Good Essays
  • Good Essays

    Zellweger syndrome is one of a group of four related diseases called peroxisome biogenesis disorders, a group of deadly genetic diseases that claim the lives of children usually before they reach their first birthday. This syndrome is the most common type of peroxisome biogenesis disorder. The disease is caused by defects in any one of 13 genes, called PEX genes, required for the normal formation and function of peroxisomes. Peroxisomes are cell structures that break down toxic substances and synthesize lipids that are necessary for cell function. Peroxisomes are required for normal brain development and function and the formation of myelin, the substance that coats nerve fibers. They are also required for normal eye, liver, kidney, and bone functions. Zellweger spectrum disorders result from dysfunctional lipid metabolism, including the over-accumulation of very long-chain fatty acids and phytanic acid, and defects of bile acids and plasmalogens which are specialized lipids found in cell membranes and myelin sheaths of nerve fibers. (National Institute of Neurological Disorder and Stroke)…

    • 741 Words
    • 3 Pages
    Good Essays

Related Topics