Nicolas‚ Vida Marie C. February 24‚ 2014 IA12116 Prof. Brenda Lansang GENETIC DISORDERS 22q11.2 Deletion Syndrome 22q11.2 deletion syndrome is a disorder caused by the deletion of a small piece of chromosome 22. The deletion occurs near the middle of the chromosome at a location designated q11.2. 22q11.2 deletion syndrome has many possible signs and symptoms that can affect almost any part of the body. The features of this syndrome vary widely‚ even among affected members
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Genetic disorders are a topic in biology that can not be avoided. The fact is that genetic disorders can happen in humans‚ plants or animal. No one and nothing is safe from a genetic disorder. A genetic disorder can appear in the first years off life‚ or can appear much later in life when least expected. A basic principal of biology states that the behavior of chromosomes during the meiosis process can account for genetic inheritance patterns. There are many reasons for genetic disorders. To start
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number‚ size and morphological features of each chromosome II. Types of Human Genetic disorders a. Human Chromosomal Abnormalities 1. Nondisjunction Occurs when homologous chromosomes fail to segregate during meiosis Produces gametes with three chromosome pairs (trisomy) or only one chromosome of a normal pair (monosomy) Involves any chromosomes‚ including the sex chromosomes Causes serious genetic disorders Ex: Down’s syndrome- trisomy 21 Edward’s syndrome- trisomy 18 Patau syndrome-
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Genetic diseases are kind of disease caused by the genetic material that makes up a person.They are caused by abnormalities in genes that are referred to as variations.Some of these diseases are caused entirely by genes while others are a combination of genetic and environmental factors.The genetic disorder can also be inherited from parent to child. These diseases are of different types and have different causes.One type is called a single gene disorder‚ Genetic diseases which fall into this category
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Fetal Genetic Disorders Lead To Abortion When a woman first finds out that they are pregnant many factors of worry are present. One is particular is the worry of a genital defect. As women age their percentile chance of having a baby with a genital defect changes drastically. Common genetic disorders are trisomy 13‚ Patau syndrome‚ trisomy 18‚ Edward’s syndrome‚ and trisomy 21‚ Down syndrome. Although these can be treatable if a baby lives to adult age they will have a long list of medical problems
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December 1‚ 2012 Polydactyle Polydactyle is a genetic disorder that is caused by a gene on chromosome seven. Polydactyle is a condition were an individual has more than five digits per hand. Most cases are isolated and not related to any other disorder but some are related to others. The errors occur during fetal development and they are caused by on several mutations on a gene that is known as chromosome seven. Polydactlyle is Autosomal dominant meaning that an offspring can get this
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Genes are codes for certain function that are found in DNA. The combination of genes is what makes each individual unique. MCADD is a genetic disorder‚ caused by a mutation or damage to the gene‚ ACADM‚ that codes for the enzyme‚ medium chain acyl CoA dehydrogenase. This results in the enzyme being absent or existing in minimal quantities. An enzyme increases the rate of a chemical reaction. Our body needs many enzymes in order to make the materials needed for our bodies to function and be healthy
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Tay-sachs Disease Genetic disorders happen every day‚ children spend everyday in the hospital. Tay-Sachs is named from Warren Tay (1843-1927) and Bernard Sachs(1858-1954).Tay-Sachs disease is a rare hereditary disease caused by a genetic transfer that leaves the body unable to produce an enzyme necessary for fat metabolism in nerve cells‚ producing central nervous system degeneration. Tay-sachs symptoms are diagnosed according to what causes Tay-sachs. The disease is inherited doctors after diagnosis
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diseases that come from having a defective enzyme. Among the many‚ Lysosomal storage disorder (LSD) is an inherited autosomal recessive gene disorder. Meaning that it is an inherited disorder that has come from both parents. (Lysosomal Storage Disorders‚ 2003-2006) This specific disorder is when the body is missing the enzymes that have the ability to recycle cellular waste. The role of the enzyme missing from this disorder‚ has the function of breaking down the more complex
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Sex linked genetic disorders Fragile x syndrome Sex-linked traits are genetic characteristics determined by genes located on sex chromosomes. Genes are pieces of DNA on chromosomes that carry information that are responsible for inheriting traits. Different forms of the same gene are called alleles. One allele for a certain trait is inherited from a mother and one from a father. These traits are passed down from parent to their offspring by sexual reproduction. Fragile X syndrome (FXS) or Martin-Bell
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