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2q37 monosomy : ウィキペディア英語版 | 2q37 monosomy
2q37 monosomy is a rare genetic disorder caused by a deletion of a segment at the end of chromosome 2. ==Clinical description==
Almost all patients with this syndrome have some degree of mental retardation and facial dysmorphism (round face, deep-set eyes, thin upper lip). Behavioural problems are common. Brachymetaphalangism (metacarpal or metatarsal shortening) is reported in ~50% of cases overall, but is typically not evident below the age of 2 years. There is striking phenotypic variability, and the size and extent of the deleted region cannot be used as accurate predictors of prognosis. Some patients have additional problems such as congenital heart disease and seizures.
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