Genotype-phenotype correlation

De novo interstitial deletion in the long arm of chromosome 11: a case report

L. L. Li, Zhang, H. G., Shao, X. G., Gao, J. C., Zhang, H. Y., Liu, R. Z., Li, L. L., Zhang, H. G., Shao, X. G., Gao, J. C., Zhang, H. Y., and Liu, R. Z., De novo interstitial deletion in the long arm of chromosome 11: a case report, vol. 15, p. -, 2016.

The 11q terminal deletion disorder is a rare genetic disorder associated with numerous clinical features. A few case reports have been made about de novo interstitial deletion of chromosome 11q. However, due to the heterogeneity in size and position of the deletions, a clear genotype-phenotype correlation is not easily made. Here we report a case interstitial 20.5-Mb deletion at chromosome 11q13.4q21, as confirmed by array comparative genomic hybridization.

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