Case Reports
doi: 10.1007/BF00393977.
The 11q -- syndrome
- PMID: 844873
- DOI: 10.1007/BF00393977
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Case Reports
The 11q -- syndrome
Hum Genet.
.
Abstract
An eighth case of terminal deletion of the long arm of chromosome eleven (11q--) is reported to emphasize both the distinctive facies, but otherwise non-specific nature of this disorder, and the female preponderance of affected patients. Growth and mental retardation, congenital heart disease and telecanthus are the other most constant features. The authors' experience with 3 unrelated cases in less than 2 years suggests that this syndrome is underdiagnosed.
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