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  • Duplication of the long arm of chromosome 7 with multiple abnormalities and delayed mental and physical development. Infants with dup(7)(q31-7qter) have large fontanels, prominent forehead, short downslanting palpebral fissures, long philtrum, thin vermilion border, downcurved upper lip, and micrognathia; those with dup(7)(q32-7qter) also have hypotonia, epicanthal folds, scoliosis, hip dislocation, and strabismus; and patients with inv dup(7)(q21.2-q36) have hydrocephalus, depressed nasal bridge, low-set ears, microretrognathia, and short neck. The phenotype varies with the size of the duplicated segment. Duplication of large segments usually results in early mortality.
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