which are responsible for most other phenotypic features. More precisely, the Wolf-Hirschhorn syndrome critical region (WHSCR) is located at 4p16.3 region. Approximately 25% of the patients with WHS deletion in this region are not detectable by cytogenetic karyotyping [6]. Hence, FISH has to be performed. The prevalence of this syndrome is estimated to be 1 in 50,000 births [7] with a female to male ratio of 2:1[8]. Case report: A baby was born with low birth weight of 1.8 kg to a 36 yr old father
By 2003 seven types of Mucopolysaccharidoses had been discovered. There is not a specific year or date for the discovery of the different types of MPS but all of them were discovered by 2003. MPS is a recessive allele genetic disorder; that lacks the production of certain lysosomal enzymes. The lack of these enzymes could cause their body to be disfigured, some individuals have problems with their respiratory system, circulation system, and their facial structure. Although there is not a known cure
What does syndrome mean and how many types of syndromes are there? The Merriam-Webster Medical Dictionary defines syndrome as " a group of signs and symptoms that occur together and characterize a particular abnormality" (1). This definition, however, does not include some important details. For example, the cause of many syndromes is unknown, and most of the syndromes do not have a cure. In fact, there are more than fifty types of syndromes that vary between genetic and psychological syndromes.
of attacks varies among affected people. The frequency is usually highest between the ages of 15 and 35 and then decreases with age. HOKPP can be caused by mutations in three genes which are CACNA1S, SCN4A, or KCNJ18, which I will explain their cytogenetic location. The CACNA1S gene provides
Introduction The growth and development of a prenatal baby is sometimes taken for granted by the parents, but one little change in a chromosome can result in a variety of genetic disorders. Discovered by Dr. Jerome Lejune, Cri-du-Chat Syndrome is the production of a deletion in the short arm of the chromosome number 5. Cri-du-Chat Syndrome has a number of symptoms, but the distinctive feature is the cat-like “mew” that infants produce, which is what the syndrome is named for. This rare genetic disorder
Nearly a decade ago, I found my passion for research through science, technology, engineering, and mathematics (STEM) programs. Beginning in 2008, I joined the FIRST (For Inspiration and Recognition of Science and Technology) Robotics Competition, an international high school competition where teams of students, coaches, and mentors build game-playing robots during a six-week period. After five years of annual competitions at the University of Minnesota, my knowledge in technology, engineering, and
clone. As well as, the occurrence of a marked increase in the proportion of blast cells, this in addition leaves cells undamaged. If no cells with the Philadelphia chromosome are found in the blood or bone marrow, then patients obtain a complete cytogenetic response (CCyR). The process by which Gleevec acts to inhibits bcr-abl in CML patients is by helping to reverse uncontrolled cell growth where Gleevec acts on a molecular target by a method that is more specific to cancer cells. It was shown that
percent and no direct association between CCS and birth order, age of parents, or significant prenatal events has been established (Rodriquez-Caballero, 2010). Diagnosis is critical and is effectuated through karyotype analysis followed by molecular-cytogenetic analysis (FISH); two types have been identified, atypical and typical (i.e. atypical types present with unaffected/deleted critical regions of the chromosome, and, therefore, do not suffer significant learning delays). Through early diagnosis,
Diseases have claimed millions of lives over the course of human history. The causes of many of the illnesses that have plagued the human race have been found at the microscopic level. The microscope, one of the greatest human inventions, has helped find causes, and thereby treatments, for many of these illnesses. Moreover, the microscope can assist in solving crimes, as well as see the cells that make humans who they are. The origins of the microscope can be traced back to the Roman invention of
Chronic lymphocytic leukaemia(CLL)is a common adult leukaemia that results from proliferation of neoplastic B- lymphocyte clones. The disease is most frequent in patients over the age of 60 and has a variable clinical course. A variety of genetic aberrations can drive the leukaemia and also initiate the transformation into high grade malignancy. Diagnosis of CLL is usually straight forward. Most cases are usually suspected by the presence of peripheral blood lymphocytosis of small mature lymphocytes
CONTENTS: 1. Taxonomy 2. Introduction 3. Origin & Geographical distribution 4. Botanical Description 5. Biology 6. Cytogenetics (Karyotype of Diploid) (Karyotype of Polyploid) 7. Scope in Pakistan 8. Problems 9. Products 10. Services 11. Uses SANDALWOOD Kingdom:Plantae Order:Santalales Genus:Santalum Species:album, spicatum,paniculatum etc Family:Santalaceae Chromosome no.2n=2x=20 2n=4x=40 Other names:Fragrant sandalwood, Indian sandalwood, Australian sandalwood, White
2. The term “genetic testing” covers an array of techniques and can be defined as the analysis of human DNA, RNA, genes and/or chromosomes or the analysis of human proteins or certain metabolites, with the primary purpose of detecting a heritable genotype, mutation, phenotype or karyotype . Genetic tests are used as a health tool to detect gene variants associated with specific disease or condition, as well as for non-clinical uses such as paternity testing and forensics. In clinical testing, genetic
Compare and contrast acute lymphocytic leukemia and acute myelogenous leukemia in children. What are possible presenting features and diagnostic criteria? What are the cure rates with treatment? Acute lymphocytic leukemia (ALL) is a form of cancer that occurs when the lymphoid stem cell is affected thereby causing abnormal white blood cells to build up in the bone marrow. This cancer rapidly produces and replaces healthy cells with immature lymphoblast. The leukemia cells moves into the bloodstream
Acute Myeloid Leukemia (AML) is the most common type of acute leukemia in adults. AML is a heterogeneous disease which results from genetic alterations in normal hematopoietic stem cells. These alterations induce differentiation arrest and/or excessive proliferation of abnormal leukemic cells or blasts [1]. Recent genomic studies have identified that recurrent somatic mutations in patients with AML blocks differentiation and/or enhance self-renewal by altered transcription factors [2,3]. The genetic
The person I was assigned to research was a scientist by the name of Barbara Mcclintock. She was well known for her studies in Cytogenetics and has made several important discoveries. I found lots of helpful and interesting information about her that I am happy to share with you. I hope you learn a lot about Barbara Mcclintock. Barbara was born in Hartford, Connecticut on June 16, 1902. She was the daughter of Sarah Mcclintock and Thomas Henry Mcclintock and had four siblings. As a child Barbara
Multiple Myeloma What is Multiple Myeloma? Multiple myeloma, also known as myeloma, hematologic cancer, or cancer of the blood is a plasma cell cancer, a type of white blood cell made in the bone marrow that is responsible for creating antibodies. A Multiple myeloma diagnosis means a group of these plasma cells has become cancerous and is multiplying. This cancerous multiplication of plasma cells raises the the level of abnormal proteins in circulating blood, and reduces the space available in the
The topic of my PhD thesis is "cytogenetic and epidemiological studies of breast and colorectal cancer families". While I am conducting PhD work at Regional Cancer Institute, I got opportunities to know more about cancer patients and their families. Familial cancers are characterized by
Autism is a condition, or "disorder" that affects many people. Autism strikes at will, when and where it wants. Unlike Downs Syndrome or other birth "defects," Autism leave no marks on those that it strikes. In fact, Autism takes pride in the ability to infiltrate a child's life, while leaving him or her strikingly handsome. Many people may not even know that Autism is there. They blame the child for what it cause him or her to do. This is Autism and it do as it please. Autism spectrum disorder
may have been misdiagnosed in earlier generations as Parkinson's disease or other similar affliction, he or she might pass along the gene without even knowing it. The gene for Huntington's disease is located on the short arm of chromosome four in cytogenetic band 4p16.3. It was first identified in 1993. While everyone posseses this gene, in someone suffering from Huntington's disease, the number of repeats of a certain trinucleotide, cytozine-adenine- guanine (CAG), is much larger than what it is in
Fanconi Anemia (FA) is a hereditary recessive disorder that is characterized by defective DNA cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and cytogenetic instability. FA is caused by mutations in a complex set of proteins, including a FA core complex which contains eight out of sixteen known FA genes and their associated proteins. The FA proteins work together in a genome maintenance pathway called the FA/BRCA pathway, which plays an important