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The 11q- syndrome

Research paper by John Frank, Vincent M. Riccardi

Indexed on: 01 Jan '77Published on: 01 Jan '77Published in: Human Genetics



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.