Aneuploidy

Trisomy 13, or Patau Syndrome, is caused by the presence of three chromosome copies on chromosome 13. An extra copy of chromosome 13 causes the majority of cases. Some cases are caused by a Robertsonian translocation between chromosome 13 and other autosomes such as chromosomes 15, 21, and 22. According to Bishra & Clericuzio "Trisomy 13 is the third most common autosomal trisomy, with an incidence of 1 per 10,000" (Bishara & Clericuzio, 2008, p. 30). It is comprised mainly of defects of the

Trisomy 21 also called Down syndrome, is an abnormality at a chromosome level and is believed to be the most prevalent genetic impairment (Bukato & Daehler, 2012, p. 89). Compared to other children with related mental development, a child with Down syndrome has academic impairment such as language and memory, their physical development is considered slow, and they possess unique traits. Some of these traits consist of almond shaped eyes, a flattened facial feature, broad hands, and an unusual crease

Down syndrome In 1866, an English doctor named John Langdon Haydon Down described a certain type of mental retardation that suffered from some people. Because it is the first wrote about it, the disorder became known as Down syndrome. However, Dr. Down did not know exactly what cause this syndrome. Almost 100 years later, a French geneticist named Dr. Jerome Lejeune found that the cause of the syndrome, by a problem with the number of chromosomes that the person has. Chromosomes are structures similar

If an archaeologist were to go into my room they would discover a silver ring that sits on top of a bookshelf. The ring is small, about a size six. Halfway through, the band is interrupted by two hands with cuffs holding a heart with a crown on it. The design is very detailed. The cuffs aren’t perfectly square, they’re a little wider on the side distal to the hands. Five ridges about one centimeter apart are on the cuffs. A protruding ring separates the cuffs and hands. The first four fingers hold

There are many different types of syndromes and disease in the world today. Steven Johnson is one of them. This Syndrome is a very rare disorder in the world today. Many persons do not have a clue in which what this serious is or/and why it occurs. The Steven Johnson syndrome is a disorder of someone’s skin or mucous infection. This occurs when the persons take medication(s) that they are possibly is allergic to. It’s really not the medication but it’s like the medication is fighting off some good

McCune Albright Syndrome Summary: McCune-Albright syndrome (MAS) is a disorder caused by a non-inherited mutation of GNAS1 gene. Clinical manifestations of the disorder include one or more of the following: (1) polyostotic fibrous dysplasia (PFD), (2) café-au-lait skin pigmentation, and (3) endocrine hyperfunction, usually early puberty in girls but also may include other endocrine abnormalities like pituitary gigantism and Cushing syndrome. It is a rare disease with estimated prevalence between

I chose to research Turner Syndrome because it sounded very interesting. Turner syndrome is a condition that affects females only. Turner syndrome is the result of a missing, whole or partial, X chromosome. Turner syndrome can be diagnosed before birth but will occasionally not be diagnosed until the teen years. Diagnosis will depend upon symptom severity. Turner syndrome has symptoms for both those born before and after birth. Diagnosis is dependent upon finding symptoms when it comes to prenatal

Have you ever wonder or questioned the disorder of down syndrome? According to many National Down Syndrome Society within the United States, Down syndrome has occurred one out of eight hundred births. It is the most frequent form of mental retardation and characterized by well-defined events and distinctive features. It’s a lifelong disorder caused by a genetic defeat that’s none curable. It takes people with patients and kind hearts to care for people with Down syndrome disorder. History In the

A-T Questions A. Who first discovered the genetic disorder or autoimmune disease? How was it discovered? Answer: In 1866, Doctor John Langdon Down. He first described Down syndrome as a disorder, but he misunderstood how Down syndrome arises. The cause of Down syndrome was rather recently discovered in 1959. Down syndrome is a genetic disorder and most common cause of cognitive impairments. B. Is the disease state recessive or dominant? Explain your answer. Answer: The disease isn’t a

Emanuel Syndrome is a congenital chromosomal disorder that can disrupt the development of multiple parts of the entire body. Though numbers are growing, in 2012, over 200 causes of Emanuel Syndrome have been reported in the United States (Zaki, Mohamed, Kamel, El-Gerzway & El-Ruby, 2012). The numbers of those diagnosed with this disorder are low due to the low incidence of this population, but also because of how new this disorder is. In 2004, Emanuel Syndrome officially got its name (Chromosome