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The 11q- syndrome

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Summary

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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References

  1. Jacobsen, P., Hauge, M., Henningsen, K., Hobloth, N., Mikkelsen, M., Philip, J.: An (11;21) translocation in four generations with chromosome 11 abnormalities in the offspring. Hum. Hered. 23, 568–585 (1973)

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  2. Larsons, A., Yeatman, S. W., Riccardi, V. M.: Deletion of 11q: Report of 2 cases and a Review. Birth Defects Original Article Series. Vol. XII, 125–130 (1976)

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  3. Faust, J., Vogel, W., Lonig, B.: A case with 46,XX,del(11)(q21). Clin. Genet. 6, 90–97 (1974)

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  4. Linnarelli, L. G., Gopalkrishna, P. K., Pan, S. F., Rubin, H. M.: Anomalies associated with partial deletion of the long arm of chromosome 11. J. Pediatr. 86, 750–752 (1975)

    Google Scholar 

  5. Engel, E., Heirshberg, C. S., Cassidy, S. B., McGee, B. J.: Chromosome 11 Long Arm Partial Deletion: A new syndrome. Amer. J. Ment. Defic. 80, 473–475 (1976)

    Google Scholar 

  6. Riccardi, V. M., Sujansky, E., Smith, A. C.: (Personal observations)

  7. Francke, U.: Duplication 11q syndrome. Birth Defects Original Article Series (In press)

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Authors and Affiliations

  1. Genetics Unit, Milwaukee Children's Hospital, 1700 West Wisconsin Avenue, 53233, Milwaukee, Wisconsin, USA

    John Frank & Vincent M. Riccardi

Authors
  1. John Frank
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  2. Vincent M. Riccardi
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Frank, J., Riccardi, V.M. The 11q- syndrome. Hum Genet 35, 241–246 (1977). https://doi.org/10.1007/BF00393977

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  • DOI: https://doi.org/10.1007/BF00393977

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