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Multi-Factorial Inheritance

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Genes are the basic hereditary units consisting of DNA sequences which code information for the synthesis of specific proteins. Phenotypic expression as well as the personality expression and behavioral patterns are also determined by these genes. Disorders caused by the abnormalities in an individual’s genome are known as genetic disorders which are either inherited or caused by mutation in the pre-existing genes (Shiel, 2010). Genetic disorders can be classified into four categories which are single-gene disorder, multi-factorial inheritance, chromosomal inheritance and mitochondrial mutations. (Refer to Figure 1, Appendix 1). Each disorder is further discussed based on their characteristics, diseases, symptoms and possible treatments.
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Major features of this type of disorder are the occurrence of mutations in multiple genes as well as significant environmental influences may lead to this type of disorder (Shiel, 2010). The severity of the polygenic disorder is directly proportional to number of inherited deleterious genes (Kumar et al., 2005). According to Shiel (2010), breast cancer is influenced by mutation in different genes found on chromosomes 6, 11, 13, 14, 15, 17, and 22. First degree relatives of the affected individual have a risk of being affected between 2% to 7%. However, it is complicated to verify the risk of passing on this disorder as they do not have a clear-cut pattern of inheritance which eventually makes it difficult to treat multi-factorial disorders (Mehta, n.d.). According to Kumar et al. (2005), multi-factorial disorder mainly depends on family clustering factor rather than the Mendelian and chromosomal modes of …show more content…

According to Campbell et al. (2008), symptoms of Down syndrome include distinctive facial appearance, short stature, heart defects, respiratory infections and mental retardation. Unlike trisomy which has an additional chromosome, monosomy lacks a chromosome, having 45, X set of chromosome complement leads to Turner’s syndrome with extent phenotypic expressions such as shorter than average, webbed neck, broad chest, swelling of hands and feet, skeletal abnormalities, and they are also infertile due to the absence of ovarian function (Shiel, 2010). Other syndrome include Klinefelter syndrome caused by 47, XXY karyotype which is commonly referred to as male hypogonadism. An extra X chromosome in their karyotype leads to phenotypic expressions like less muscular body, less facial and body hair, broader hips, larger breasts, weaker bones, and lower energy level than normal boys (Shiel, 2010). Cri du chat syndrome is an example of disorder caused by chromosomal abnormalities which is due to the alteration in chromosomal structure. It is also known as Lejeunes’s syndrome in which a part of chromosome 5 is missing, altering the morphology of that chromosome (Tyagi, Kumar1, Kumar2, Singla, & Singh, 2010). Infected individuals are mentally retarded and show unusual facial features, low birth weight and poor growth, small head, webbing of fingers or toes,

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In 1866, John Langdon Down, a British physician, identified a group of people whose symptoms were very similar. These were: eyes that were upwardly slanting, a flattened back of the head, and fissured and poorly controlled tongues. The term “mongolism” was coined to describe these people with Down’s Syndrome. In 1959, Jerome Lejeune identified the disorder as a chromosomal condition. He saw that those with the condition had 47 chromosomes in their cells instead of the normal 46.

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Inheritance by Dr. Sharon Moalem is an exceptional book. Dr. Moalem’s goal for writing this book is to convey a new idea of genetics and inheritance to the reader. In middle school and high school we were taught that our genetics comes from our parents and that they are fixed throughout our lifetime, but Dr. Sharon Moalem brings the idea that the environment may alter them. He states that the food we eat and the trauma we endure during life can imprint onto our genes. Dr. Moalem works with rare genetic disorders where he accumulates his knowledge from research to help treat his patients with changing some environmental factors in their lives.

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The cause of this condition is not known. RISK FACTORS This condition is more likely to develop in: • Children aged 3–15 years. • Boys.

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Of course, the condition will most likely involve a heart problem, which is discovered at birth, along with a webbed neck, chest deformities, many birth marks, also known as café-au-lait spots, and a short stature. The features of this syndrome are not fully known, considering the fact that there are numerous characteristics and no two infected individuals have the same exact features. Like in most other disease cases, there are lists of more minor symptoms that can occur in an individual. In infants and newborns, feeding problems are present, due to a poor sucking reflex. Behavioral problems and developmental delays can occur, which causes the individual to achieve milestones slower, such as sitting and walking.

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Q. how is this disorder diagnosed & tested? A. its really self-diagnosed you don’t need to be a dr. to know if you have the disorder all you got to do is Look down at your hands a feet and check if you have an extra thumb, pinky or big/small toe. As for how its tests there are x-rays, enzyme tests, chromosome studies, and metabolic

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Depression was the dominant mental illness whereas bipolar disorder was not (Resnick, 2007). The author analyzed that since her immediately family was diagnosed with depression and bipolar disorder the expressive gene would be CACNA1C; CACNB2 would not be considered in the discussion since this expressive gene is linked to Autism and

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The specific locus is indicated by the nomenclature: chromosome 22, long arm, position 1, band 1, sub-band 2. All affected individuals of this syndrome contain this faulty genotype but it is expressed with incomplete penetrance. As a result, each individual would rarely manifest all the above features and have a wildly different combination of those compared to others, even among relatives with hereditary 22q11.2DS. The mechanism by which the microdeletion causes all the associated features of the syndrome is unknown and is still an area undergoing

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Brooke Martin Report #2 - Prader-Willi Syndrome Prader-Willi Syndrome, an imprinted disorder, is caused by the absence of paternal chromosome fifteen, at least in approximately seventy percent of all cases. In other unlikely cases, a child may have inherited two copies of chromosome fifteen from its mother, which is referred to as maternal uniparental disomy. Similarly, in vitro fertilisation may increase the risk of a mother birthing a child with an imprinted disorder. PWS can cause delayed development, low muscle strength and tone, stunted growth, difficulties feeding, obesity, infertility, and behavior problems.

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Down syndrome is a very common genetic disorder. 1 in every 691 kids are born in the United States has it according to the National Down Syndrome Society c. Symptoms of Downs include: mild to moderate mental disability, stunted growth, low muscle tone, and thyroid issues, higher risk for Alzheimer’s and heart failure. (Genetic Disorders Sourcebook, Third Edition) (Transition: Now that you have a better understanding of what Down Syndrome is, let’s take a look at the 2 most common ways Trisomy 21 occurs) II. Although there are more than two ways to acquire the extra 21st chromosome that causes Down Syndrome, I’m only going to cover the two most common.

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In addition it causes the underdevelopment or lack of a nipple, webbed fingers with a shorter than average length, lack of armpit hair, skin in affected areas being hypoplastic, underdevelopment or lack of the upper rib cage, occasionally affecting the shoulder blade, and in extremely rare cases, spine or kidney problems. Although specifics on how the disorder is transmitted or what can be done to prevent it is limited at the time, research is continuing and more information will be uncovered in the

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Genes and the environment go hand in hand, so the blame can not be just on the gene. Past experiences program one’s genes; thus, genes are not the only thing that affect one’s behavior. Every human has the MAOA gene, and many men have the variant and do not act on impulsive thoughts. Genes are always a part of one’s life. When a criminal that has the mutation on the MAOA gene commits a crime, they are more likely to commit another crime in the future since it is genetic.

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For example, molecular genetic testing shows a correlation between a mutation on KCNQ2 and KCNQ3 with benign familial neonatal convulsions, a form of epilepsy (Fister, Soltirovska-Salamon, Debeljak, & Paro-Panjan, 2013). Myths and Misconceptions

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In most cases of Down syndrome, a child gets an extra chromosome 21 for a total of 47 chromosomes instead of 46. (Susan Skallerup) Research said it is this extra genetic material that causes the physical appearance and developmental delays associated with DS. Today no one knows for sure why DS happens and there's no way to prevent the chromosomal error that causes it. Scientists do know that women age 35 and older have a extremely higher risk of having a child with the condition.

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