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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Autori principali:	Dhekra Ismail, Lilia Kraoua, Sylvie Jaillard, Hela Bellil, Mohamed Zairi, Faouzi Maazoul, Ridha Mrad, Mohamed Nabil Nessib, Mediha Trabelsi
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	BMC 2024-12-01
Serie:	Molecular Cytogenetics
Soggetti:	11q deletion Sprengel’s deformity aCGH coloboma genotype-phenotype correlation
Accesso online:	https://doi.org/10.1186/s13039-024-00695-z
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