Lesch-Nyhan Syndrome or LNS exclusively only affects males. The mothers can pass the disease through the X chromosome; therefore, it is denoted as an x-linked recessive disease. This disease can affect approximately 1 in 380,000 births. Lesch-Nyhan Syndrome is an inborn fault of purine metabolism. There are an abundance of symptoms associated with this genetically rare disease. Lesch-Nyhan Syndrome only affects males, because it is only associated on the X chromosome and it is recessive, hence females will not be affected by this disease only males. Mutations on the hypoxanthine phosphoribosyltransferase 1 gene or HPRT1 causes Lesch-Nyhan Syndrome. The cytogenetic position of HPRT1 is Xq26.1. The gene usually encodes the protein called transferase,
Click here to unlock this and over one million essaysShow More
Later it was discovered that it was the result of an extra copy of chromosome 21. The nondisjunction that results in an extra copy of chromosome 21 occurs during anaphase I in meiosis I. The genetic mutation is trisomy 21 (3 copies of chromosome 21). The characteristic phenotypic occurrences that are distinct to the disorder: poor muscle tone, stout neck, flat face, small head, mouth, and ears, eyes slanting upwardly, Brushfield spots, and stout fingers and
Charles Bonnet Syndrome (CBS) is a form of visual hallucination. Although it is not quite a known disorder worldwide, it affects many people. One may have normal cognition and no psychological ailment but still be diagnosed with Charles Bonnet Syndrome. Also, contrary to popular belief, it is not merely the imagination of the individual affected. Yeager (2013) stated that during the hallucination, insight is still intact; the individual registers that the hallucinations are not real.
Parry-Romberg Syndrome Parry-Romberg syndrome is an uncommon disease that slows the progressive deterioration of the skin and soft tissues in half of the face. This disease usually affects the left side of the face. The disease is more common to happen to females than males. Some signs that you have this disease are facial changes by the upper jaw, between the nose and upper corner of the lip, change in the angle of the mouth, eyes, brow, ear, and neck. This can also affect the tongue, roof of the mouth, and the gums.
Fifth Disease, Pediatric Fifth disease is a viral infection that causes mild cold-like symptoms and a rash. It is more common in children than adults. For most children, fifth disease is not a serious infection. Symptoms usually go away in 7–10 days, though the rash may last a bit longer.
“Because it is unlikely that females will have two altered copies of this gene, it is very rare for females to have hemophilia. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. ” says the US National Library of
“Every human has an MAOA gene. ... The MAOA gene is located on the X chromosome, which means that while women have two copies, men only have one.... There are a few variants of the gene, one of which -- MAOA-3R, present in about 30 percent of men -- has been shown over and over again, in
Prenatal diagnosis of the Meckel-Gruber syndrome(MGS) is crucial to avoid misdiagnosing this syndrome with other conditions such as Zellweger syndrome, trisomy 13, Jeune syndrome ,and Agostino syndrome which all have normal amniotic fluid volume while oligohydramnios ( a condition in which the amniotic fluid is lower than normal) occurs in Meckel-Gruber syndrome. It is most important for families with previously affected children because the possibility of recurrence is up to 25%. Meckel-Gruber syndrome can be detected from 11 weeks of gestation by identifying at least two of the classical triad (which are occipital encephalocele, polycystic kidneys, polydactyly). There are 3 major steps involved in diagnosing Meckel-Gruber syndrome. The first step is to look into the family history.
The disease is linked only with the X gene. This is what IPEX syndrome is. ( www.ghr.nlm.nih.gov; Immunodysregulation, Polyendocrinopathy, Enteropathy, X linked disease) With IPEX syndrome, there are also many effects, one including type one diabetes. Type one diabetes is when the pancreas produces little to no insulin in the body, because of this a person might have to either wear an insulin pump or take insulin shots.
Marfan syndrome is named after Antoine Marfan, the French doctor who first described the disorder in 1896. Marfan syndrome affects the body 's connective tissue. Connective tissue is found everywhere in the body. Think of it as a sort of "glue" that helps support your organs, blood vessels, bones, joints, and muscles.
When the PolyQ expansion goes into the HTT protein the neurological disorder begins to form. The HTT protein if it is mutated it will not create enough protein which plays an important role in the brains neurons. Although Huntington’s disease does have genes that cause the mutation, the mutation is then transmitted to one of the parents, which will eventually be inherited to the children. The way Huntington’s disease is inherited is because it has an autosomal dominant inheritance gene. The gene can either be inherited from either parent that has a mutant allele.
Causes- Myotonic dystrophy is a disease inheritance, autosomal dominant. This means that it does not depend on sex and has a risk of recurrence by 50% for each pregnancy. The cause is abnormal expansion of the three bases (triplet) of a gene on
It can be found in both sexes, but most of the time the disease is found in females. Many people faced with this disease are filled with the feeling of uncertainty. “It most often begins in childhood or adolescence, but can begin in adulthood.” (WebMD) The disease affects children and adults, as you now know. The general age of it to set is around the age of 31 years old, even though it can occur at any point of the life cycle.
Klienfeltor syndrome is a chromosome condition that affects male development. 47, XXY when someone has two X and one Y chromosome. Normally Males have an X and a Y chromosome, and females normally have two X chromosomes. People with Klinefeltor syndrome normally have two extra sex chromosomes in each cell. Klienfeltor syndrome affects one in 500 to 1,000 newborn males.
The cause is passed down from mother to son through the X link chromosome making this disease affect the male child.
The Lamin A gene is a dominant gene which is not X-linked, and almost always happen through an accidental mutation. With Progeria, it is not the gene that directly causes the disease, it is caused by a poorly or a non-functioning protein which is created by using the code, Prelamin A. Progeria is formed by an modification in LMNA which causes the gene to change, which then leads to a change in protein with a different function and form. Since Progeria is an autosomal disease, the mutation mostly always occurs after conception in the child. But there are rare cases where the parent does have the mutation in their sex-cells, which will lead to a very high chance that their child will have Progeria. Also if the child has the majority of the cells