Interstitial 11q deletion in a patient with Sprengel's deformity: a case report and review of the literature

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Ismail, Dhekra | Kraoua, Lilia | Jaillard, Sylvie | Bellil, Hela | Zairi, Mohamed | Maazoul, Faouzi | Mrad, Ridha | Nessib, Mohamed Nabil | Trabelsi, Mediha

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International audience. Background: Interstitial chromosome 11 long arm deletions (11q13-q23) represent a rare cytogenetic abnormality characterized by non-specific clinical features including intellectual disability and several malformations without a clear genotype-phenotype correlation. We describe the first case of interstitial 11q deletion identified in a boy with Sprengel's deformity and provide a review of the literature.Case presentation: We report a 9-year-old boy with congenital scapular deformity, iris and chorioretinal coloboma, normal intelligence, and a history of mild motor development delay. The karyotype showed a de novo large 11q deletion. Fluorescence in situ hybridization (FISH) confirmed that the deletion is interstitial, and array comparative genomic hybridization (aCGH) revealed a loss of 25.8 Mb encompassing the 11q14.1-q22.3 region.Conclusions: The present case and the literature review of 61 previously published cases highlight the clinical heterogeneity and the lack of genotype-phenotype correlation in interstitial 11q deletions. Sprengel's deformity found in our patient might be a new finding in 11q deletions or, more probably, a fortuitous association.

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