Syndromes

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 and other tissues in the body to stretch. It is likely that missing a copy of this gene results in the narrowing of blood vessels, stretchy skin, and flexible joints seen in this condition. Symptoms of Williams syndrome are: Delayed speech that may later turn into strong speaking ability and strong learning by hearing. Developmental delay. Easily distracted, attention deficit disorder, also known as ADD. Feeding problems such as colic, reflux, and…

Angelman syndrome is a rare genetic disorder that affects around 1 in around 12,000-20,000 live births and affects both males and females equally. Angelman syndrome is very often misdiagnosed as autism or cerebral palsy. Angelman syndrome is not an inherited disease, and is instead caused by a change in the E3 ubiquitin protein ligase gene (UBE3A) on the maternal chromosome 15. This change prevents the chromosome from functioning properly. It occurs as a random event during the formation of eggs…

Mohammad Ekrama Biology 22 Professor Clark 1october 2016 Christianson Syndrome Abstract: Christianson Syndrome is a super rare disease, it is a recessive X-linked disorder ,that usually affects the human body, specifically the nervous system. There are a lot of symptoms for this disorder like ataxia, seizures, epilepsy, severe mental retardation and microcephaly. Mutations on the SLC9A6 gene cause Christianson Syndrome, this gene is located on the X chromosome. This disorder is usually…

Overview: What is Williams Syndrome? Definition: Williams Syndrome is a genetic disorder, resulting from the deletion of 26 or more genes one chromosome number 7 (Mervis et al., 2000). That seemingly small loss can affect numerous parts of a person’s physical and mental health, as well as social behavior and sensory perception (Genetics Home Reference, 2014). Diagnosis: Williams Syndrome is a genetic condition that a child is born with and it can impact a child’s prenatal development as well…

Asperger’s Syndrome is a condition that’s widely known throughout the world. Asperger’s exists as part of the autism spectrum but differs in the early development of language from other developmental disorders. Asperger’s Syndrome and high functioning autism are often referred to as the same condition. Individuals with both Asperger’s and high functioning autism have average or above average intelligence, but may have issues involving social situations and communication. However, these are two…

Williams Syndrome (WS) is a rare genetic disorder that affects approximately 20,000 people in the United States. This condition is present at birth. The causes of Williams syndrome is due to the deletion of 26 plus genes on one of an individual’s chromosome #7. Individuals born with Williams syndrome share a number of common neurological, medical, and behavioral characteristics as well as common facial features. Some of the individuals experience mild cardiovascular disorders that may…

What Is Downs Syndrome 1. Introduction Down syndrome is a genetic condition which causes a certain level of characteristic physical appearance and a disability in learning. The genetic condition is produced by a problem in gene and this takes place before birth. There is a certain grade of intellectual disability this differs between each person. Babies which are born with Down’s syndrome are diagnosed with the disorder after birth they are most likely to have below average weight as well as…

Goodpasture syndrome is classified as an autoimmune disease due to B and T-cell mediated responses that result in the patient’s body to development antibodies against its own normal tissue, specifically the basement membranes of the glomerulus (glomerular basement membranes) and of the lungs (alveolar basement membranes) More specifically, the antibodies are developed against the noncollagenous domain 1 of the alpha 3-chain of type IV collagen). The noncollagenous domain 1 alpha 3 chain of type…

In 1965 Harry Angelman reported clinical findings in three children with similar, unusual, attributes. These children had what was known as “happy puppet” syndrome, but was later changed to Angelman syndrome, due to its pejorative name. Angelman syndrome is a neurodevelopmental disorder distinguished by: severe learning difficulties, ataxia, jerky movements, epilepsy, speech impairments, hypopigmentation in the hair and the skin with blue eyes, subtle dysmorphic facial features, and happy and…

Down syndrome - People with down syndrome often share the same characteristics of facial features, short stature, shorter lifespan, slower development and learning capabilities. They are often victims to respiratory diseases, early Alzheimer’s, leukemia, vision problems, and hearing defects. This mutation is caused by the mother’s age or the result of nondisjunction in father’s chromosome 21(extra copy of chromosome 21). Patau syndrome - Patau syndrome causes serious defects to the eye, brain,…