Klippel–Feil syndrome is a very rare disease. It was reported for the first time in 1912 by Maurice Klippel and André Feil. It has been characterized by the fusion of any 2 of the 7 cervical vertebrae. The syndrome occurs in a heterogeneous group of patients unified only by the presence of a defect in the formation or segmentation of the spine. Klippel–Feil syndrome can be identified by shortness of the neck. Those with the syndrome have a very low hairline and the ability of the neck to move is
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Paul Keel CDV 106 Cassandra Johnson December 2‚ 2013 Script for Fragile X Presentation Slide 1. FRAGILE X SYNDROME Slide 2. Fragile X syndrome (FXS) is a genetic disorder and the leading cause of inherited mental retardation. Children with this syndrome often have significant delays in learning‚ autistic-like behavior‚ hyperactivity‚ and a distinctive physical appearance Slide 3. The term “fragile X” comes from the finding that the X chromosomes of affected individuals have a
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Marfan syndrome is a multisystem disorder resulting with clinical manifestations typically involving the skeletal‚ ocular‚ and cardiovascular systems. Skeletal abnormalities of Marfan syndrome include disproportionate overgrowth of the long bones‚ anterior chest deformity due to overgrowth of the ribs‚ and overgrowth of the fingers. A reduced upper-segment to lower-segment ratio to arm span to height ratio of greater than 1.05 due to the overgrowth of the arms and leg is also a major criterion for
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advantages and disadvantages? Budd Chiari Syndrome •Clinical term used to describe the manifestation of hepatic venous outflow obstruction •Secondary to hepatic vein thrombosis •Or to the narrowing/occlusion of the inferior vena cava (Khan 2009‚Val DC 2003) Ostial stenosis web thrombus Abdominal vein Liver Stomach Gallbladder Enlarged caudate lobe Inferior vena cava Portal vein (Menon et al.‚ 2004) Budd Chiari Syndrome • Primary type -Endoluminal venous (I.e. Thrombosis
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1. Explain what must happen in order for Greg and Susan to have a child with O type blood and nail-patella syndrome. Greg needs to pass down his chromosome 9 which carry the alleles‚ n and i. Susan also has the n and I alleles on chromosome 9. If both these alleles from both parents are passed down‚ it will create the allele Nnii which produced the blood type O and nail patella syndrome. 2. Determine all possible parental and recombinant gametes produced by Greg and Susan. Greg’s parental
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Heather Muse April 26‚ 2013 Aristotle Essay Is Happiness Achievable? Aristotle states there are several goods in the world but most of these are not ultimate ends; instead they are means to something else. However‚ he declares happiness is the ultimate good because everything we do‚ we do in hopes of being happy and we don’t use happiness as a means to achieve another thing. He also states there are rules to be followed and maintained in order to accurately judge someone or something as being
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Polycystic Ovarian Syndrome The most common female endocrine disorder is Polycystic Ovarian Syndrome (PCOS). As reported by the Polycystic Ovarian Syndrome Association‚ PCOS is the imbalance of hormones in a women’s body which can lead to menstrual cycle changes‚ cysts in the ovaries‚ trouble getting pregnant‚ and other health changes (What is PCOS‚ 2009). The cause of this endocrine disorder is unknown‚ however‚ according to the National Institute of Health (NIH)‚ it is connected to changes in
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Diarmuid Sugrue Angelman Syndrome SYMPTOMS Angelman Syndrome is a neuro-genetic disorder involving the chromosomal region 15q‚ between positions 11-13. The symptoms primarily include intellectual development retardation‚ epilepsy‚ speech impairment‚ ataxia‚ and persistent laughing or smiling. CAUSATIVE MUTATIONS A healthy individual receives 2 copies of the 15 chromosome‚ one maternal and one paternal. The chromosomal region 15q11-13 (base pairs 23‚133‚488-23‚235‚220)‚ contains the gene
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POLYCYSTIC OVARIAN SYNDROME (1) Etiology Women with polycystic ovarian syndrome (PCOS) have abnormalities in the metabolism of androgens and estrogen and in the control of androgen production. High serum concentrations of androgenic hormones‚ such as testosterone‚ androstenedione‚ and dehydroepiandrosterone sulfate (DHEA-S)‚ may be encountered in these patients. However‚ individual variation is considerable‚ and a particular patient might have normal androgen levels. PCOS is also associated with
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Alien Hand Syndrome Alien Hand syndrome‚ also known as Anarchic Hand syndrome and Dr. Strangelove syndrome‚ is a neurological disorder in which a person’s hand seemingly has a mind of its own. The person will feel normal sensation‚ but will have no conscious control of their afflicted hand or hands. This syndrome is best documented when a person has the two hemispheres or their brain surgically separated‚ a routine surgery for those with epilepsy. A person with alien hand syndrome can feel
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