Interstitial 11q deletion in a patient with Sprengel’s deformity: a case report and review of the literature
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.
Authors
- Médiha Trabelsi (ORCID: https://orcid.org/0000-0001-8369-6186)
- Ridha Mrad
- Hela Bellil
- Mohamed Zairi (ORCID: https://orcid.org/0000-0002-3358-9769)
- Lilia Kraoua
- Mohamed Nabil Nessib (ORCID: https://orcid.org/0000-0002-4952-5516)
- Faouzi Mâazoul (ORCID: https://orcid.org/0000-0002-1381-6565)
- Sylvie Jaillard
- D. Ismail
Institutions
- Tunis University (TN)
- Hôpital Charles-Nicolle (TN)
- Centre Hospitalier Universitaire de Rennes (FR)
- Children's Hospital (TN)
- Faculté de médecine de Tunis
- Tunis El Manar University (TN)
Publication Details
- Journal
- Molecular Cytogenetics
- Published
- 2024-12-03
- DOI
- https://doi.org/10.1186/s13039-024-00695-z
- Primary Topic
- Genomic variations and chromosomal abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 0.00