Tos, TülayAlp, Muhammed YunusKaracan, Can DemirAndıran, NesibeÇolakoglu, E. Y.2024-01-232024-01-232014Tos, T. vd. (2014). "De novo interstitial deletion of 9q32-34.1 with mental retardation, developmental delay, epilepsy, and cortical dysplasia: A case report". Genetic Counseling, 25(2), 197-201.1015-8146https://hdl.handle.net/11452/39243De novo interstitial deletion of 9q32-34.1 with mental retardation, developmental delay, epilepsy, and cortical dysplasia: a case report: In this report we describe a 10 year-old female patient with interstitial deletion of 9q32-q34.1 associated with mental retardation, developmental delay, short stature, mild facial dysmorphism, epilepsy, abnormal EEG and brain MRI findings consistent with focal cortical dysplasia. Interstitial deletion of 9q associated with q32-q34 is found extremely rare. Common features of seven previously reported cases are mental retardation, developmental delay, short stature, a distinct cranial and facial phenotype (brachycephaly, low midface, low and prominent forehead, and low set malformed ears). Combination of epilepsy, abnormal EEG and brain MRI findings are not reported before.eninfo:eu-repo/semantics/closedAccessCortical dysplasiaMental retardationDevelopmental delayInterstitial deletion 9q32-q34.1EpilepsyBiotechnology & applied microbiologyGenetics & heredityResearch & experimental medicineMedical ethicsChildChromosome deletionChromosomes, human, pair 9Developmental disabilitiesEpilepsyFemaleHumansIntellectual disabilityMalformations of cortical developmentDe novo interstitial deletion of 9q32-34.1 with mental retardation, developmental delay, epilepsy, and cortical dysplasia: A case reportArticle0003387526000102-s2.0-8490424681119720125225059019Biotechnology & applied microbiologyMedicine, research & experimentalGenetics & heredityMedical ethicsBasal Cell Nevus Syndrome; Jaw Cysts; MutationArticleCase reportChildChromosome 9qChromosome analysisCortical dysplasiaDevelopmental disorderElectroencephalogramEpilepsyFace dysmorphiaFemaleGenetic disorderHumanIntelligence quotientInterstitial chromosome deletionKaryotypeLearning disorderMental deficiencyNuclear magnetic resonance imagingRare diseaseSchool childSecond degree relativeSpecial educationStanford-binet intelligence scaleTemporal lobe