Total: 1 |
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PMID (PMCID) | ||
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8160749 |
MALE | Infant, Newborn |
Confirmation of proximal 1q duplication using fluorescence in situ hybridization. | ||
Chen H, Kusyk CJ, Tuck-Muller CM, Martinez JE, Dorand RD, Wertelecki W. Am J Med Genet. 1994;50(1):28-31. |
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We report on a boy with excessively wrinkled skin, mild micro/brachycephaly with mild hydrocephalus and slightly small temporal lobes, apparently low-set ears, retro/micrognathia and cleft soft palate (Pierre-Robin anomaly), patent ductus arteriosus and foramen ovale, pulmonary hypoplasia, eventration of the left hemidiaphragm, right cryptorchidism, a sacral dimple, flexion contractures of fingers and knees, and equinovarus deformities of both feet. |