合計: 1 |
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PMID (PMCID) | ||
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1877620 |
FEMALE | Infant, Newborn |
Interstitial tandem direct duplication of the long arm of chromosome 4 (q23-q27) and possible assignment of the structural gene encoding human aspartylglucosaminidase to this segment. | ||
Halal F, Vekemans M, Chitayat D. Am J Med Genet. 1991;39(4):418-21. |
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Clinical manifestations included postnatal growth and psychomotor retardation, microcephaly, hirsute forehead, epicanthic folds, strabismus, depressed nasal bridge, long philtrum, small mouth, tetralogy of Fallot, and sacral dimple. |