Total: 1 |
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PMID (PMCID) | ||
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6974525 |
MIXED_SAMPLE | Infant, Newborn |
Terminal deletion of the long arm of chromosome 4. Report of a case of 46, XY, del(4)(q31) and review of 4q- syndrome. | ||
Yu CW, Chen H, Baucum RW, Hand AM. Ann Genet. 1981;24(3):158-61. |
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The infant had hypertelorism, epicanthal folds, depressed nasal bridge, short nasal septum with upturned nose, bilateral open cleft lip and palate, retro- and micrognathia, low set, malformed ear, short neck, distally placed nipples, a sacral dimple, hypospadias, dysplastic nails, overriding toes, simian creases, patterns on interdigital and hypothenar areas, hypoplasia of gallbladder, and cardiac defects consisting of tricuspid atresia, left sided vena cava and anomalous aortic arch. |