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Williams Syndrome, also known as Williams-Beuren Syndrome, is a genetic condition characterized by a deletion on chromosome 7, affecting development and leading to distinctive facial features, heart defects, and a unique cognitive profile with strong language skills but poor visuospatial abilities. Early detection and intervention are crucial for managing the syndrome's wide-ranging impacts on individuals' lives.
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Williams Syndrome is a rare genetic disorder caused by a deletion of approximately 26 to 28 genes on chromosome 7, resulting in a distinct constellation of features and developmental challenges
Deletion on Chromosome 7
Williams Syndrome is caused by a spontaneous deletion on chromosome 7 at the q11.23 locus, resulting in the loss of several genes essential for normal development
De Novo Occurrence
The deletion associated with Williams Syndrome occurs de novo, meaning it is not inherited but rather happens randomly during the creation of egg or sperm cells or in early fetal development
The diagnosis of Williams Syndrome is based on a combination of clinical evaluation and genetic testing, including the use of the Fluorescent In-Situ Hybridization (FISH) test or other genomic techniques
Individuals with Williams Syndrome typically have a unique cognitive profile marked by a pronounced ability in music and language, despite the presence of intellectual disabilities
Individuals with Williams Syndrome typically have a very sociable personality and exhibit strong verbal communication skills, but may also face challenges with social inhibition
The study of Williams Syndrome offers valuable insights into the genetic influences on learning and language development, highlighting the intricate relationship between genetic makeup and cognitive functions
The terms Williams Syndrome and Williams-Beuren Syndrome are used synonymously to describe the same genetic condition, honoring the contributions of two cardiologists who independently documented the syndrome's clinical features
Early identification of Williams Syndrome is critical for timely intervention and support, as the spectrum of symptoms includes cardiovascular abnormalities, distinctive facial features, and learning and social challenges
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______ Syndrome is a genetic condition caused by the deletion of 26 to 28 genes on ______.
Williams
chromosome 7
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People with ______ Syndrome may have heart issues like ______ and display a friendly demeanor.
Williams
Supravalvular Aortic Stenosis (SVAS)
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Chromosome involved in Williams Syndrome
Chromosome 7 at q11.23 locus
Algorino
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