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People with Williams syndrome tend to use speech that is rich in emotional descriptors, high in prosody (exaggerated rhythm and emotional intensity), and features unusual terms and strange idioms. [37] Among the hallmark traits of people with Williams syndrome is an apparent lack of social inhibition.
7q11.23 duplication syndrome (also called dup7 or 7dup or duplication of the Williams-Beuren syndrome critical region) is a rare genetic syndrome caused by micro-duplication of 1.5-1.8 mega base in section q11.23 of chromosome 7.
GeneReviews is an online database containing standardized peer-reviewed articles that describe specific heritable diseases. It was established in 1997 as GeneClinics by Roberta A Pagon ( University of Washington ) with funding from the National Institutes of Health . [ 1 ]
Multiple Endocrine Neoplasia type 1 (MEN1) is a rare hereditary endocrine cancer syndrome characterized primarily by tumors of the parathyroid glands (95% of cases), endocrine gastroenteropancreatic (GEP) tract (30–80% of cases), and anterior pituitary (15–90% of cases). [19]
The exact cause of Alzheimer’s disease has long evaded scientists, but experts typically suggest there are likely several factors (like genetics, environment, and lifestyle) that contribute to ...
On Feb. 7, 2022, baby Soren was born — surprising doctors and medical staff by breathing on his own without the help of oxygen. "Besides his heart, he was a perfectly healthy baby boy," Morgan says.
Fryns-Aftimos syndrome is a genetic conditions that presents with a multitude of varying signs, symptoms and characteristics facies. Commonly characterized by hypertelorism, congenital nonmyopathic ptosis, iris or retinal coloboma, deafness, epilepsy, and pachygyria. [5]
An intense blast of cold air shattered records in the central United States this week with temperatures up to 50 degrees below average. The bitter cold is pushing into the South and East to end ...