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Turner syndrome (TS), commonly known as 45,X, or 45,X0, [note 1] is a chromosomal disorder in which female cells have only one X chromosome instead of two, or are partially missing an X chromosome (sex chromosome monosomy) leading to the complete or partial deletion of the pseudoautosomal regions (PAR1, PAR2) in the affected X chromosome.
Ullrich congenital muscular dystrophy (UCMD) is a form of congenital muscular dystrophy.There are two forms: UCMD1 and UCMD2. [4]UCMD1 is associated with variants of type VI collagen, while UCMD2 is associated with variants of type XII collagen.
Wilson-Turner syndrome (WTS), also known as mental retardation X linked syndromic 6 (MRXS6), and mental retardation X linked with gynecomastia and obesity is a congenital condition characterized by intellectual disability and associated with childhood-onset obesity. [1]
Gonadectomy is recommended in individuals with Swyer syndrome due to the risk of malignant tumors from the mosaicism in the Y chromosome. [10] Gonadal dysgenesis has also been related to other syndromes such as Wilms tumour-aniridia syndrome (WAGR syndrome). As described in the name, individuals with this syndrome have a Wilms tumor (type of ...
Trisomy X, also known as triple X syndrome and characterized by the karyotype [note 1] 47,XXX, is a chromosome disorder in which a female has an extra copy of the X chromosome. It is relatively common and occurs in 1 in 1,000 females, but is rarely diagnosed; fewer than 10% of those with the condition know they have it.
Max “rapidly declined and went into full-body paralysis,” wrote Chelsea in an Aug. 2 post. The 3-year-old spent several days on a ventilator to support his lung function.
Ronnie Turner’s wife, French singer Afida Turner, who married him the year Ike Turner died, wrote on Instagram on Dec. 9 that Ronnie died from cancer. She also mourned the loss of her husband in ...
Henry Hubert Turner (August 28, 1892 – August 4, 1970) was an American endocrinologist, noted for his published description of Turner syndrome in 1938 at the annual meeting of the Association for the Study of Internal Secretions.