A 14q31.1-q32.11 deletion case: Genotype – Neurological Phenotype Correlations in 14q interstitial deletion syndrome

Abstract

Interstitial deletions involving the long arm of chromosome 14 are rare conditions that associate facial dysmorphism, neurological features such as seizures, motor and cognitive delay with speech problems and autistic traits. We report on an 11-year-old girl of Tatar origin with an interstitial deletion involving region 14q31.1-q32.11. The affected region encompasses 46 genes, including 19 Mendelian genes. Epilepsy, motor and cognitive delay and speech problems are the main neurological features identified in our patient. Through the accurate mapping of the deleted region and comparison with previously reported patients, we aim to expand the knowledge regarding genotype-phenotype correlations in 14q interstitial deletion cases.