Two cases of ring chromosome 11

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Abstract

Two cases of ring chromosome 11 are reported. Both had mental retardation, microcephaly, and short stature. High resolution G banding in case 1 showed no visible loss of chromatin, the karyotype being assessed as 46,XX,r(11) (p15.4q2.5). In case 2, a Wilms' tumour developed at 8 months and the child died at 18 months. Cytogenetic analysis by Q banding demonstrated minimal chromosome deletion and the karyotype was considered to be 46,XY,r(11) (p15q25).

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Romain, D. R., Gebbie, O. B., Parfitt, R. G., Columbano-Green, L. M., Smythe, R. H., Chapman, C. J., & Kerr, A. (1983). Two cases of ring chromosome 11. Journal of Medical Genetics, 20(5), 380–382. https://doi.org/10.1136/jmg.20.5.380

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