Congenital disorders

part on the small arm (p) of chromosome 5 is absent. The disorder occurs in 1 in 20,000 to 50,000 live births according to the US National Library of Medicine. What causes this to happen is currently unknown. Cri du chat syndrome was first described in 1963 by French geneticist Jérôme Lejeune. He noticed that several of his patients exhibited a mewing cry like that of a cat. He described it as a syndrome consisting of multiple congenital anomalies. These anomalies being mental retardation,…

from the crowd. Albinism is a congenital defect that may occur from a multitude of mutations. It causes difficulties for those affected by the condition to live a life like everyone else. From small daily obstacles to a vast array of persecutions, living with such a condition is proving to be impossible for some. The following will elucidate the causes of albinism, the persecutions albinos are facing, and what is being done to help. Congenital hypopigmentary disorders, known as albinism, are the…

Disorders of sexual development (DSD) have been a topic of great interest as of late. Intersex, at its most basic definition, is when one does not ‘fit’ into the binary gender structure most commonly subscribed to in Western civilization; or, rather, having a variation of sexual characteristics or a combination other than the more common female to XX and male to XY. Research shows that 1.7% of the population has a DSD, considering the current population of the U.S., that would be approximately…

This is a test to screen a pregnancy to determine whether a baby has an increased chance of having specific chromosome disorders. The test examines the baby's DNA in the mother's blood. Williams Syndrome Williams syndrome is a rare disorder that can lead to problems with development. It is passed down in the offsprings of families. One of the 25 missing genes is the one that produces elastin, a protein that allows blood vessels…

advances, that religious superstition emancipated the fact that epilepsy was a medical condition. The word "epilepsy" is derived from Latin and Greek words for "seizure" or "to seize upon" , which leads to the implication that epilepsy is an ancient disorder. In fact, as far back as medical records exist, epilepsy can be traced in all civilizations. Epilepsy…

allowing the doctor to make recommendations to their health and decrease their chance in developing the certain disease, or to test to see if the person has other genetic conditions, which would impact their chance of passing on or developing a genetic disorder. Though many positives may outweigh the negatives of genetic testing, does not mean the drawbacks of it should not be considered. When your results are concluded, it may emotionally affect you and your family. Depending on the…

common genetic disorders are Down Syndrome, Huntington’s Disease, Sickle Cell Disease, and Hemophilia. Modifying genes can help eliminate the disorders as well as resulting in a potential to live longer and healthier. But, is it right? Is it ethical? Can people go ‘too far’? Although genetic engineering has some benefits, the risks are even higher. Genetic Engineering…

Rett Syndrome Report Cathy Qian Clinical features Rett Syndrome (RTT) is a genetic disease which presents with a seemingly normal development up until 1-3 years of age. The disease is only present in females, as it is an X-linked dominant disorder and males with a defective X chromosome die prematurely. It is rare, with an estimate of 1:10000 - 1:15000 live female births. (4) This is when Stage II begins, with deterioration of mental processes. The rate of deterioration varies. Symptoms…

However, I do not think this statement should discourage individuals with acquired disabilities. I think an individual who have a congenital disability does not have former experience of a higher functioning level. Yet, individuals who have acquired disabilities can compare their level of functioning and I think it could be possible to return to full functioning level but I think they…

diagnosis. There have been other instances where exome sequencing was used to diagnose genetic disorders. One instance occurred in a patient who was thought to have Bartter syndrome (a "renal salt-wasting disease"). This patient was proved to have a "homozygous missense D652N mutation in SLC26A3"(Ku, 2012, p. 9). This finding was significant, according to Ku (2012), because this gene is the known congenital chloride-losing diarrhea locus. After a follow up with the child 's pediatrician the…