Interstitial 11q deletion in a patient with Sprengel’s deformity: a case report and review of the literature
Abstract 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 cas...
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| Language: | English |
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BMC
2024-12-01
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| Series: | Molecular Cytogenetics |
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| Online Access: | https://doi.org/10.1186/s13039-024-00695-z |
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| author | Dhekra Ismail Lilia Kraoua Sylvie Jaillard Hela Bellil Mohamed Zairi Faouzi Maazoul Ridha Mrad Mohamed Nabil Nessib Mediha Trabelsi |
| author_facet | Dhekra Ismail Lilia Kraoua Sylvie Jaillard Hela Bellil Mohamed Zairi Faouzi Maazoul Ridha Mrad Mohamed Nabil Nessib Mediha Trabelsi |
| author_sort | Dhekra Ismail |
| collection | DOAJ |
| description | Abstract 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. |
| format | Article |
| id | doaj-art-0ce03cf3ee914d5480ebaf5acbd4d46f |
| institution | OA Journals |
| issn | 1755-8166 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | BMC |
| record_format | Article |
| series | Molecular Cytogenetics |
| spelling | doaj-art-0ce03cf3ee914d5480ebaf5acbd4d46f2025-08-20T02:31:00ZengBMCMolecular Cytogenetics1755-81662024-12-011711910.1186/s13039-024-00695-zInterstitial 11q deletion in a patient with Sprengel’s deformity: a case report and review of the literatureDhekra Ismail0Lilia Kraoua1Sylvie Jaillard2Hela Bellil3Mohamed Zairi4Faouzi Maazoul5Ridha Mrad6Mohamed Nabil Nessib7Mediha Trabelsi8Department of Genetics, Charles Nicolle HospitalDepartment of Genetics, Charles Nicolle HospitalDepartment of Cytogenetics and Cell Biology, CHU RennesDepartment of Genetics, Charles Nicolle HospitalDepartment of Pediatric Orthopedic Surgery, Bechir Hamza Children’s HospitalDepartment of Genetics, Charles Nicolle HospitalDepartment of Genetics, Charles Nicolle HospitalDepartment of Pediatric Orthopedic Surgery, Bechir Hamza Children’s HospitalDepartment of Genetics, Charles Nicolle HospitalAbstract 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.https://doi.org/10.1186/s13039-024-00695-z11q deletionSprengel’s deformityaCGHcolobomagenotype-phenotype correlation |
| spellingShingle | Dhekra Ismail Lilia Kraoua Sylvie Jaillard Hela Bellil Mohamed Zairi Faouzi Maazoul Ridha Mrad Mohamed Nabil Nessib Mediha Trabelsi Interstitial 11q deletion in a patient with Sprengel’s deformity: a case report and review of the literature Molecular Cytogenetics 11q deletion Sprengel’s deformity aCGH coloboma genotype-phenotype correlation |
| title | Interstitial 11q deletion in a patient with Sprengel’s deformity: a case report and review of the literature |
| title_full | Interstitial 11q deletion in a patient with Sprengel’s deformity: a case report and review of the literature |
| title_fullStr | Interstitial 11q deletion in a patient with Sprengel’s deformity: a case report and review of the literature |
| title_full_unstemmed | Interstitial 11q deletion in a patient with Sprengel’s deformity: a case report and review of the literature |
| title_short | Interstitial 11q deletion in a patient with Sprengel’s deformity: a case report and review of the literature |
| title_sort | interstitial 11q deletion in a patient with sprengel s deformity a case report and review of the literature |
| topic | 11q deletion Sprengel’s deformity aCGH coloboma genotype-phenotype correlation |
| url | https://doi.org/10.1186/s13039-024-00695-z |
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