2p15-16.1 microdeletion syndrome
| 2p15-16.1 microdeletion syndrome ： ウィキペディア英語版|
2p15-16.1 microdeletion is a rare genetic disorder caused by a small deletion in the short arm of human chromosome 2. First described in two patients in 2007, by 2013 only 21 (missing reference for the other ~17 patients) people have been reported as having the disorder in the medical literature.
Only 21 patients with 2p15-16.1 microdeletion have been described as of 2013. The clinical similarities between the individuals resulted in the classification of a new genetic syndrome.〔〔〔 The shared clinical features include moderate to severe intellectual disability and similar facial features including telecanthus, drooping eyelids, downslanting, short palpebral fissures, a prominent nasal bridge, high palate with long, smooth philtrum and an everted lower lip. Some of the patients also had feeding problems in infancy, microcephaly, optic nerve hypoplasia and hydronephrosis, wide-spaced nipples, short stature, cortical dysplasia, camptodactyly and pigeon toe.〔〔〔
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