caused by abnormalities in one of the X-chromosomes. While turner syndrome’s symptoms may be mistaken at birth. However, the condition often isn’t diagnose until puberty. Although, with all other diseases most people don’t understand the dieses. So it goes untreated and the sighs are not taken seriously. Turner syndrome is a genetic cause. Females have two X-chromosomes. While the male have Y and X-Chromosomes. When a baby is born they are born with 23 chromosomes. To determine the gender of…
Trisomy is a cell that has three copies of one chromosome instead of having the normal two copies. Trisomy 21 is the congenital disorder better known as Down syndrome. This occurs when each cell has three copies of chromosome twenty-one rather than having a normal pair. Nondisjunction is "an error in which homologous chromosomes or sister chromatids fail to separate normally during meiosis or mitosis" (Huether, McCancep, 2012, p.42). Therefore, a common cause of Down syndrome is nondisjunction…
(scoliosis) can also be caused by Angelman Syndrome. Even with the abundant amount of disabilities that come with having this disorder, the life expectancy of the affected people is almost normal. The cause of Angelman Syndrome is a genetic mutation in chromosome 15. A person without this disorder would get one gene from their mother and one gene from their father. People with Angelman Syndrome, however, only have one of those genes active in parts of the brain, meaning that gene is either…
The first client information you are reviewing pertains to Maddie. Maddie has a diagnosis of Down syndrome (2pts). Based on your resources, this diagnosis is due to an extra chromosome on the 21st chromosome (short answer response here – 5 pts) which would be considered a pediatric genetic condition (2pts) disorder. This disorder is characterized by characteristic facial features such as slanted eyes, skinfold over nasal corners of eyes, flat nasal bridge, small mouth, protruding tongue,…
weaken the musculoskeletal system. Muscle Dystrophies are characterized by muscle weakness, defects in muscle proteins and the death of muscle cells and tissue. Duchenne Muscular Dystrophy is one of many types found and it passed down through the X chromosome. DMD is one of the most common muscle diseases found in early childhood. 1 in 3500 boys are born with DMD however very rarely affects girls with a 1 in 50million chance. It is caused by a small mutation in the DMD gene and it is inherited…
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. It is seen in all ages, races and socioeconomic levels, but a higher incidence is found with a maternal age older than 35 years. This is associated with the fact that 90% of cases with an extra chromosome 21 originates from the mother. Trisomy 21 is associated with intellectual…
Tay-Sachs Disease What if I told you that there was a disease that could cause your muscles to weaken. That it could also cause your brothers or sisters to die at an early age. Tay-Sachs Disease is a genetic disorder that usually happens in infants and the symptoms don’t show until the 5-6 months. This disease kills thousands if not hundreds of thousands. Tay-Sachs Disease symptoms are diagnosed according to what causes Tay-Sachs. Tay-Sachs is not inherited. Doctors, after diagnosis, will…
Research into the genetics of deafness has shown that mutations in the CX26 gene, located on human chromosome 13q11, cause non-syndromic recessive deafness (9, 10). Expression of GJB2 has been documented in a variety of cells and tissues. In the cochlea, CX26-containing gap junctions are proposed to maintain K homeostasis by ferrying K away from the hair…
condition that I am going to discuss is Down’s syndrome. Down’s syndrome is a genetic condition known as trisomy; this is where a person has an extra copy of one chromosome; people who have Down’s syndrome have 47 chromosomes. This extra chromosome is from group 21; people with Down’s syndrome have three copies of chromosome 21. The extra chromosome is caused by a mistake in the meiosis process; meiosis is the type of cell division by which gametes, the sperm cell…
the PD (parental ditype) and NPD (non-parental ditype) asci along with the segregation independently, should be equal. The second hypothesis is for linked genes and this is that both of the spore coloration are seen on the same pair of homologous chromosomes. This just makes them inherited together due to the linkage physically together. The rule states that Mendel’s law doesn’t correspond with this and it would not make sense if the genes were linked. If the genes were linked then the PD and T…