Russell-Silver Syndrome

Improved Essays
Did you know there is an average of 20,000-25,000 genes per one single chromosome? And one change or shortage in such a minute item can cause a major condition, disease, disorder and even cancer. Chromosomes seven - twelve have large number of gene pairs and genes that are roughly the following; chromosome 7 spans about 159 million DNA base pairs and likely contains 900 to 1,000 genes, chromosome 8 spans more than 146 million DNA base pairs, and likely contains about 700 genes, chromosome 9 is made up of about 141 million DNA base pairs and likely contains 800 to 900 genes, chromosome 10 spans more than 135 million DNA base pairs and likely contains 700 to 800 genes, chromosome 11 spans about 135 million DNA base pairs and likely contains …show more content…
Some of these include, but are not limited to Russell-Silver Syndrome, Bladder Cancer, and Emanuel Syndrome. These conditions, diseases, disorders, and cancers will be discussed, and how they have a very substantial impact on a life.
Russell-Silver Syndrome (RSS) is a semi-rare condition that only has about 400 reported cases worldwide. During the years of 1953 and 1954 two doctors, Dr. H. K. Silver and A. Russell discovered and wrote about a dwarfism the could be recognized at or before birth. The condition was obviously later named after the doctors themselves. As stated above Russell-Silver Syndrome is a condition of dwarfism, and factors for it can even sometimes be recognized before birth. However some of the calling cards from this condition after birth include distinct facial appearance, soft spot slow to close, body growth problems, discoloration of eyes and
…show more content…
This disorder has had many names now retired due to their social incorrectness; one of those including ‘cat-eye syndrome’. The most recent renaming came in 2005 and workers from the Pennsylvania Medical Center were working on this condition that affects the eleventh chromosome, and one of these doctors was named Dr. Beverly Emanuel, and thanks to her hard work it was renamed after her. “Emanuel syndrome is a condition in which genetic material from two chromosomes are crossed, causing an extra chromosome and numerous health problems,” (Kelly 218). ‘Translocation’ is also a term often used while referring to Emanuel Syndrome (Kelly 218). Some problems caused by Emanuel Syndrome may include poor muscle tone at birth, distinct facial features, ear disorders, cleft palate, failure to thrive, developmental delay, heart defects, kidney issue, sex organ abnormalities, and severe intellectual disabilities. Children with Emanuel Syndrome have an extra chromosome with genetic material from all of the chromosomes. Chromosome Eleven has about “134 million amino acid base pairs and about 1,500 genes...about 150 genes relate to the sense of smell,” (Kelly 219-29). This small amount of repeat genetic material leads to a wide variety of defects that are present at birth and later lead to profound intellectual and physical disabilities. Since this condition affects the body in widespread there are many

Related Documents

  • Improved Essays

    At a young age of four months, little Aidan had to get a surgery to repair his abdominal muscle. In the surgery the doctors also discovered some distinct facial issues that was the problem that they diagnosed was the reason why Aidan had feeding issues. While time passed by Aidan’s mother and his preschool teacher began to grow more and more concerned. They both noticed that Aidan was far behind with his developmental setbacks. Aidan’s mother decided to bring Aidan to numerous clinical and genetic specialists, they weren’t able to come up with a diagnosis for poor Aidan.…

    • 464 Words
    • 2 Pages
    Improved Essays
  • Decent Essays

    Trisomy 13 Research Paper

    • 302 Words
    • 2 Pages

    July 28, 2016 an incredible miracle was welcomed into this world. Isaiah Thomas McClain, weighed 6 pounds and 14 ounces, a handsome little boy that is so special and loved very much. About seven months ago, my lovely sister Ashely has been in a tremendous amount of doctor appointments to receive help. Every one of the doctors had told her to abort him; they told her that aborting him would be the best choice, due to they believed he has an extra chromosome 13, which is called Trisomy 13; the life span is two minutes after birth up to two years. Isaiah's organs would be in the wrong place, he would have major heart problems, his brain would not have any protection, he will not have a left eye, and he will have a cleft lip.…

    • 302 Words
    • 2 Pages
    Decent Essays
  • Improved Essays

    Trisomy 21 Research Paper

    • 1600 Words
    • 7 Pages

    Describe trisomy 21. Trisomy 21 is a genetic disorder commonly known as Down syndrome. It is caused by the presence of all or part of an extra 21st chromosome. IT is the most common chromosomal abnormality associated with intellectual disability. One in 730 live births results in trisomy 21.…

    • 1600 Words
    • 7 Pages
    Improved Essays
  • Decent Essays

    COLUMN 2: Behind Column 2

    • 571 Words
    • 3 Pages

    COLUMN 2: Behind Column 1 What causes this disorder? A chromosomal mutation called translocation. Translocation is when the chromosome breaks and a portion of that chromosome reattaches to another chromosome. This chromosome that is affected by this is the 8 and 14 chromosome pair.…

    • 571 Words
    • 3 Pages
    Decent Essays
  • Improved Essays

    Affected children start to experience extreme problems and delays in growth around nine to 24 months of age. These growth delays include low weight and short stature. They also acquire specific facial features that cause their faces to not be proportioned to their heads. Other characteristic features include faint blueness around the mouth, a small nose, undersized jaw (micrognathia), crowding and deformation of teeth, and bulging eyes. HGPS patients also experience alopecia, which is an autoimmune disorder that results in hair loss.…

    • 816 Words
    • 4 Pages
    Improved Essays
  • Improved Essays

    Angelman Syndrome (AS) is a genetic disorder that causes speech problems, intellectual impairment, sleeping difficulties, and seizures. This condition causes a very happy, excitable personality in the patient resulting in outbursts of laughter and frequent smiles. In children, AS can also cause hyperactivity. With age, the sleeping problems and excitable behavior subside. Curvature in the spine (scoliosis) can also be caused by Angelman Syndrome.…

    • 376 Words
    • 2 Pages
    Improved Essays
  • Improved Essays

    Leslie Gordon and Scott Berns. Their son, Sam Berns, was diagnosed with Hutchinson-Gilford Progeria syndrome at 22 months of age. When he was nine months old his parents began to notice that he had began to lose hair and that his teething was delayed. He was also growing very slowly. Even though both of his parents are medical doctors neither of the could come to a conclusion about what was happening to their son.…

    • 758 Words
    • 4 Pages
    Improved Essays
  • Decent Essays

    Hutchinson-Gilford progeria syndrome (HGPS) is a syndrome that affects children and is fatal before the child hits pubescence. This syndrome is caused by a point mutation on the gene that codes for lamin A and C, LMNA. This mutation causes a 50 amino acid (aa) deletion in prelamin A that prevents the CAAX box from detaching. This aa deletion removes one of two vital sites of endoproteolytic cleavage that converts prelamin A, also called progerin, into mature lamin A.…

    • 242 Words
    • 1 Pages
    Decent Essays
  • Improved Essays

    Since the first discovery only approximately 130 cases have been reported in literature (Hutchinson-Gilford Progeria syndrome, 2007). Although born looking normal, children start displaying accelerated aging at the ages of 12-24 months. Case Study…

    • 684 Words
    • 3 Pages
    Improved Essays
  • Decent Essays

    Edwards Centrum Edwards' syndrome is caused by an extra (third) copy of chromosome 18. The extra chromosome is lethal for most babies born with this condition. It causes major physical abnormalities and severe mental retardation . Very few children afflicted with this syndrome survive beyond the first year. Edwards' syndrome is associated with the presence of a third copy of chromosome number 18.…

    • 231 Words
    • 1 Pages
    Decent Essays
  • Improved Essays

    Edwards Syndrome is a genetic disorder . Edwards Syndrome is really rare . This Syndrome is inherited so , you get the disorder from your parents when you are born . Edwards Syndrome is when you have a full or part of a extra eighteenth chromosome . There is no known cure at this time .…

    • 388 Words
    • 2 Pages
    Improved Essays
  • Improved Essays

    The role of the phenomenon of postmortem redistribution in forensic cases Abstract It has been established in several studies that a postmortem blood sample examination is not always a reliable reflect of blood sample examination during life. There are a large number of variables affecting the blood concentration of foreign substances in a living individual, in the other hand, there are also a number of factors that can change their levels after death. Although the underlying mechanisms involved in post mortem redistribution of drugs are not very clearly defined, some main factors can contribute to this phenomenon, including physicochemical properties of the drug, the time interval between death and sampling, the action of microorganisms, the postmortem gastric diffusion and the position of the body at the time of death. The aim of this paper is to understand the phenomenon and discuss the role of site and time-dependent variations in post mortem redistribution in forensic cases.…

    • 971 Words
    • 4 Pages
    Improved Essays
  • Superior Essays

    Dwarfism In The Hobbit

    • 717 Words
    • 3 Pages

    At each visit the pediatrician will take the measurements and plot them on a growth chart, if your baby is not meeting certain growth markers, then your doctor might order imaging studies. Imagining studies can either be a X-ray or a MRI. Ordering these images can give the doctor the ability to see abnormalities of the skull and skeleton, the ability to see delayed maturation of bones, growth hormones deficiency, and reveal abnormalities of the pituitary gland and hypothalamus, which both play a role in hormone function, and help in diagnosing which form of dwarfism. Genetic testing, hormone testing, and family history also play a role when diagnosing someone with dwarfism. Cara Reedy was born with achondroplastic dwarfism, in her own words she says “that little people are often treated as less then human.…

    • 717 Words
    • 3 Pages
    Superior Essays
  • Improved Essays

    This type of dwarfism is when some body parts are small when others are of average size or above average size. The main cause of disproportionate dwarfism is the lack of bone growth within the body, just like proportionate dwarfism. You normally can tell if the body is disproportionate at birth. During research I found that there are a lot more dwarfs disproportionate versus proportionate in the world. The lack of bone growth, which is common in both proportionate and disproportionate dwarfism, is caused when the pituitary gland fails to produce a decent amount supply of growth hormone, which is essential for normal childhood growth.…

    • 1183 Words
    • 5 Pages
    Improved Essays
  • Great Essays

    Werner's Syndrome Analysis

    • 2461 Words
    • 10 Pages

    Werner’s syndrome (WS) is a very rare autosomal recessive disease that will cause premature aging for both men and women, where symptoms may start showing up during or after puberty and will continue on through their entire lifetime.1 This being said, there is a great disproportion between a patient’s real age and the perceived appearance age. A patient that is diagnosed with WS will age progressively faster than its peers, and the median lifespan is around 54 years of age.2 Another name for this condition is “adult progeria”3 or “adult-onset progeria4”. The first case of WS was studied by a man named Otto Werner in 19045, after which only approximately 1,500 new cases have been discovered up until 2011.4 As of now, there is still no cure for…

    • 2461 Words
    • 10 Pages
    Great Essays

Related Topics