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Gardner syndrome in a man with an interstitial deletion of 5q
Abstract
Chromosome analysis of blood cells from a 42‐year‐old white male with mental retardation, colon carcinoma, horseshoe kidney, absence of left lobe of the liver, agenesis of the gallbladder, and possible Gardner syndrome revealed a constitutional marker chromosome due to del(5)(ql3q15) or del(5)(q15q22). A polymorphic chromosome #22 with enlarged satellites was inherited from the father, who is phenotypically normal, and was probably unrelated to the congenital malformations. This is the first report of a Gardner syndrome patient with an interstitial deletion of 5q.
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Citations
Cited by
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Kinzler, K. W., & Vogelstein, B. (1996) · Cell · doi:10.1016/s0092-8674(00)81333-1 · Cited by 4,919
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Fearon, E. R. (2011) · Annual Review of Pathology: Mechanisms of Disease · doi:10.1146/annurev-pathol-011110-130235 · Cited by 1,805
Bufill, J. A. (1990) · Annals of Internal Medicine · doi:10.7326/0003-4819-113-10-779 · Cited by 722
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Cartwright, C. A., Kamps, M. P., Meisler, A. I., Pipas, J. M., & Eckhart, W. (1989) · Journal of Clinical Investigation · doi:10.1172/jci114113 · Cited by 265
Seki, M., Tanaka, K., Kikuchi-Yanoshita, R., Konishi, M., Fukunari, H., Iwama, T., & Miyaki, M. (1992) · Human Genetics · doi:10.1007/bf00220544 · Cited by 43
Metadata
- Authors
- Herrera, L., Kakati, S., Gibas, L., Pietrzak, E., Sandberg, A. A., & Reynolds, J. F.
- Venue
- American Journal of Medical Genetics
- Publisher
- Wiley
- Published
- 1986-11
- Volume
- 25
- Issue
- 3
- Pages
- 473-476
- ISSN
- 0148-7299 (ISSN-L)
- 1096-8628
- OpenAlex
- W2070168194
- Cited by
- 463
- References
- 0
- FWCI
- 10.58
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: Gardner syndrome in a man with an interstitial deletion of 5q. https://app.cochat.ai/papers/10.1002/ajmg.1320250309
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- Herrera, L., Kakati, S., Gibas, L., Pietrzak, E., Sandberg, A. A., & Reynolds, J. F. (1986). Gardner syndrome in a man with an interstitial deletion of 5q. American Journal of Medical Genetics. https://doi.org/10.1002/ajmg.1320250309
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