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
Type 1, also known as NS1 and Male Turner syndrome, individuals are affected with most characteristics above. One added effect is the low number of blood platelets, which means blood clotting is very uncommon in these individuals. NS2 is closely related to NS1, except for the inheritance pattern. The last type of the condition is neurofibromatosis-Noonan syndrome, but it is really just an overlap of neurofibromatosis and NS1, however, it is only a chance occurrence, because "these conditions have two distinct gene locations, with no apparent overlap" (Gale
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.
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.
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.
In other cases the cause may be due to a translocation in the parental karyotype in chromosome 4, causing the loss of the WHS critical region of chromosome 4 in the offspring. The deletion size on the terminal part of chromosome 4 may vary. The WHSC1 encodes for DNA binding proteins and in the absence of it, other pleiotropic effects may result. This region is also responsible for chromatin remodeling which will cause insufficient regulation of other genes. LETM1 is a gene found within the WHSCR-2.[3,5] This gene is involved in Ca binding signaling, and is responsible for seizures.[4] A portion the WHSC1 is also found within the WHSCR-2 and is believed to be responsible for some father facial
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.
The infant may develop temporary muscle weakness and associated findings (i.e., transient neonatal myasthenia gravis). The passage of anti-acetylcholine receptor antibodies through the placenta to the unborn child during pregnancy may cause this condition to the infant. Some of the myasthenia gravis is inherited as an autosomal recessive, or more rarely, an autosomal dominant condition is described as congenital myasthenia gravis. The individual that inherits two copies of an abnormal gen for the same trait from each parent, the individual will have recessive genetic disorders. If the individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease but usually will not show symptoms.
“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
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 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
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.
Growth hormone insensitivity (GHIS) can be defined as the clinical and biochemical features of IGF-I deficiency associated with normal or elevated GH secretion. Laron syndrome is considered the classical form of GHIS [Savage et al., 2001]. First described by Laron et al as a new entity in 1966, Laron syndrome (MIM 262500) is an autosomal recessive disorder caused by mutations of the growth hormone receptor gene (GHR) [Laron and Klinger 1994].
Klinefelter syndrome, also known as ‘47,XXY’ and ‘XXY’ is found in males, this is due to the fact that the host male gets another X chromosome. The image on the right you can see the extra chromosome with the pair of sex chromosomes. Usually there are only two chromosomes that determine the sex, one from opposite sexes but when it comes to Klinefelters Syndrome there is an extra X chromosome. Because this due to the additional chromosome it can described as a chromosome disorder.
Some experts believe that down syndrome is caused by the lack of genes in the 21st chromosome, but the single gene or maybe even genes for
