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 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) reveal

SUBMITTER: Ismail D 

PROVIDER: S-EPMC11616351 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature