Total: 1 |
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PMID (PMCID) | ||
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3322008 |
MALE | Infant, Newborn |
A patient with partial duplication 2q and partial deficiency 11q. | ||
Ho CK, Henderson KC, Bowyer FP, Eilers KB, Andrews LG. Am J Med Genet. 1987;28(3):575-9. |
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The propositus was delivered at 30 weeks gestation, with a birth weight of 1,390 g. He had severe hyaline membrane disease, intraventricular hemorrhage, bronchopulmonary dysplasia, hypotonia, psychomotor retardation, hearing loss, and other anomalies including a short bitemporal diameter, prominent occiput, low-set ears, exophthalmos, short nose with depressed nasal root, downturned mouth corners, narrow high-arched palate, micrognathia, a deep longitudinal groove over the sacrococcygeal region, clinodactyly, and abnormal dermatoglyphics. |