| Literature DB >> 2260595 |
A C Casamassima1, R M Klein, P L Wilmot, P Brenholz, L R Shapiro.
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.Entities:
Mesh:
Year: 1990 PMID: 2260595 DOI: 10.1002/ajmg.1320370414
Source DB: PubMed Journal: Am J Med Genet ISSN: 0148-7299