Deletion of 16q with prolonged survival and unusual radiographic manifestations
- 1 December 1990
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 37 (4) , 504-509
- https://doi.org/10.1002/ajmg.1320370414
Abstract
Deletion of 16q is characterized by mental retardation, microcephaly, a characteristic combination of minor facial anomalies, and broad halluces. Various break points have been described. This patient's phenotype is typical of this syndrome, but in addition, unusual radiographic findings were present. This chromosome abnormality is compatible with survival into adulthood. Expression of this phenotype does not appear to be correlated with specific break points.Keywords
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