Abstract

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.

Keywords

Horseshoe kidneyAgenesisChromosomeBiologyGeneticsPathologyGallbladderAnatomyKidneyInternal medicineMedicineGene

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Year
1986
Type
article
Volume
25
Issue
3
Pages
473-476
Citations
458
Access
Closed

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L Herrera, Surabhi Kakati, Longina M. Gibas et al. (1986). Gardner syndrome in a man with an interstitial deletion of 5q. American Journal of Medical Genetics , 25 (3) , 473-476. https://doi.org/10.1002/ajmg.1320250309

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DOI
10.1002/ajmg.1320250309