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Henry Turner. Turner syndrome (TS), also known as 45,X, or 45,X0, is a genetic disorder in which the patient's cells have only one X chromosome 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. [2][6][7] Most ...
Parsonage–Turner syndrome, also known as acute brachial neuropathy, neuralgic amyotrophy and abbreviated PTS, is a syndrome of unknown cause; although many specific risk factors have been identified (such as; post-operative, post-infectious, post-traumatic or post-vaccination). [4] It is also known as brachial plexitis, and results in ...
May–Thurner syndrome (MTS), also known as the iliac vein compression syndrome, [1] is a condition in which compression of the common venous outflow tract of the left lower extremity may cause discomfort, swelling, pain or iliofemoral deep vein thrombosis. Specifically, the problem is due to left common iliac vein compression by the overlying ...
Grey Turner's sign refers to bruising of the flanks, the part of the body between the last rib and the top of the hip. The bruising appears as a blue discoloration, [1] and is a sign of retroperitoneal hemorrhage, or bleeding behind the peritoneum, which is a lining of the abdominal cavity. Grey Turner's sign takes 24–48 hours to develop, and ...
Noonan syndrome (NS) is a genetic disorder that may present with mildly unusual facial features, short height, congenital heart disease, bleeding problems, and skeletal malformations. [1] Facial features include widely spaced eyes, light-colored eyes, low-set ears, a short neck, and a small lower jaw. [1]
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.
Turner's hypoplasia or Turner's tooth is a presentation of enamel hypoplasia that normally affects only a single tooth. Its causes can be the same as other forms of enamel hypoplasia, but it is most commonly associated with trauma to a primary maxillary central incisor and the subsequent developmental disturbance of the underlying permanent ...
This includes patients with Turner Syndrome (45,X or 45,X0) and Klinefelter Syndrome (47,XXY) even though they do not generally present with atypical genitals. XX, Sex reversal : consist of two groups of patients with male phenotypes, the first with translocated Sex-determining region Y protein (SRY) and the second with no SRY gene.