Williams syndrome

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…

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…

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…

Williams’s syndrome is a disease that affects mostly the brain and has positives as well as negatives unfortunately the negatives outnumber the positives. Williams’s syndrome is caused by the deletion of the long arm of chromosome 7 and is not inherent. There are multiple medical problems caused by Williams’s syndrome, including developmental delays such as ADD and ADHA. A cardiovascular disease called supravalvular aortic stenosis also appears frequently in people with Williams’s syndrome and…

Williams Syndrome it is a syndrome that you are only born with and it causes medical problems, high social personalities and happens in about 1 in 10,000 people. There are 30,000 to 40,000 people in America that have Williams Syndrome. This Syndrome is not very common in America. The major cause of this disorder comes from birth defects such as losing 7 chromosomes from your gene. The Symptoms of the genetic disorders are Characteristic face appearance, Heart and blood vessel problems,…

Title: Effectiveness of Auditory Evoked Brain Potentials in diagnosis of hyperacusis and phonophobia in a case with Williams Syndrome. Introduction: Williams Syndrome (WS) is a neurodevelopmental disorder associated with a hemizygous deletion on chromosome (7)(1), . It is caused by the submicroscopic deletion of 1.5 to 1.8 Mb on chromosome 7q11.23(2), including the general transcription factor ill gene which encodes TFII-I which suppresses cell-surface accumulation of transient receptor…

Introduction: Williams Syndrome (WS) is a very rare syndrome (1:20,000) which is caused by a microdeletion on chromosome 7q11.23 and results in the individual being hyper-sociable, having high levels of anxiety and having difficulties with social, behavioural and cognitive skills. Previous research indicates that anxiety is the most prevalent mental illness found in individuals with WS and within that, specific phobias are most common. Individuals with WS find it difficult to maintain…

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…

disabilities, what sickle cell does in children with neurodevelopment disorders, and what psychiatric disorders and down syndrome does in adolescents and young adults. This paper will only contain abstracts of my own doings for each journal I have obtained for this study. I will not be going into depth with every single disorder that is within a neurodevelopment disorder such as Mendelsohn’s Syndrome or…

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…