De novo interstitial deletion of 9q32-34.1 with mental retardation, developmental delay, epilepsy, and cortical dysplasia: A case report
dc.contributor.author | Tos, Tülay | |
dc.contributor.author | Alp, Muhammed Yunus | |
dc.contributor.author | Karacan, Can Demir | |
dc.contributor.author | Andıran, Nesibe | |
dc.contributor.author | Çolakoglu, E. Y. | |
dc.date.accessioned | 2024-01-23T05:54:28Z | |
dc.date.available | 2024-01-23T05:54:28Z | |
dc.date.issued | 2014 | |
dc.description.abstract | De 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. | tr_TR |
dc.identifier.citation | Tos, 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. | tr_TR |
dc.identifier.endpage | 201 | tr_TR |
dc.identifier.issn | 1015-8146 | |
dc.identifier.issue | 2 | tr_TR |
dc.identifier.pubmed | 25059019 | tr_TR |
dc.identifier.scopus | 2-s2.0-84904246811 | tr_TR |
dc.identifier.startpage | 197 | tr_TR |
dc.identifier.uri | https://hdl.handle.net/11452/39243 | |
dc.identifier.volume | 25 | tr_TR |
dc.identifier.wos | 000338752600010 | tr_TR |
dc.indexed.pubmed | PubMed | tr_TR |
dc.indexed.wos | SCIE | |
dc.language.iso | en | tr_TR |
dc.publisher | Medecine Et Hygiene | tr_TR |
dc.relation.journal | Genetic Counseling | tr_TR |
dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi | tr_TR |
dc.rights | info:eu-repo/semantics/closedAccess | tr_TR |
dc.subject | Cortical dysplasia | tr_TR |
dc.subject | Mental retardation | tr_TR |
dc.subject | Developmental delay | tr_TR |
dc.subject | Interstitial deletion 9q32-q34.1 | tr_TR |
dc.subject | Epilepsy | tr_TR |
dc.subject | Biotechnology & applied microbiology | tr_TR |
dc.subject | Genetics & heredity | tr_TR |
dc.subject | Research & experimental medicine | tr_TR |
dc.subject | Medical ethics | tr_TR |
dc.subject.emtree | Article | tr_TR |
dc.subject.emtree | Case report | tr_TR |
dc.subject.emtree | Child | tr_TR |
dc.subject.emtree | Chromosome 9q | tr_TR |
dc.subject.emtree | Chromosome analysis | tr_TR |
dc.subject.emtree | Cortical dysplasia | tr_TR |
dc.subject.emtree | Developmental disorder | tr_TR |
dc.subject.emtree | Electroencephalogram | tr_TR |
dc.subject.emtree | Epilepsy | tr_TR |
dc.subject.emtree | Face dysmorphia | tr_TR |
dc.subject.emtree | Female | tr_TR |
dc.subject.emtree | Genetic disorder | tr_TR |
dc.subject.emtree | Human | tr_TR |
dc.subject.emtree | Intelligence quotient | tr_TR |
dc.subject.emtree | Interstitial chromosome deletion | tr_TR |
dc.subject.emtree | Karyotype | tr_TR |
dc.subject.emtree | Learning disorder | tr_TR |
dc.subject.emtree | Mental deficiency | tr_TR |
dc.subject.emtree | Nuclear magnetic resonance imaging | tr_TR |
dc.subject.emtree | Rare disease | tr_TR |
dc.subject.emtree | School child | tr_TR |
dc.subject.emtree | Second degree relative | tr_TR |
dc.subject.emtree | Special education | tr_TR |
dc.subject.emtree | Stanford-binet intelligence scale | tr_TR |
dc.subject.emtree | Temporal lobe | tr_TR |
dc.subject.mesh | Child | tr_TR |
dc.subject.mesh | Chromosome deletion | tr_TR |
dc.subject.mesh | Chromosomes, human, pair 9 | tr_TR |
dc.subject.mesh | Developmental disabilities | tr_TR |
dc.subject.mesh | Epilepsy | tr_TR |
dc.subject.mesh | Female | tr_TR |
dc.subject.mesh | Humans | tr_TR |
dc.subject.mesh | Intellectual disability | tr_TR |
dc.subject.mesh | Malformations of cortical development | tr_TR |
dc.subject.scopus | Basal Cell Nevus Syndrome; Jaw Cysts; Mutation | tr_TR |
dc.subject.wos | Biotechnology & applied microbiology | tr_TR |
dc.subject.wos | Medicine, research & experimental | tr_TR |
dc.subject.wos | Genetics & heredity | tr_TR |
dc.subject.wos | Medical ethics | tr_TR |
dc.title | De novo interstitial deletion of 9q32-34.1 with mental retardation, developmental delay, epilepsy, and cortical dysplasia: A case report | tr_TR |
dc.type | Article | tr_TR |
dc.wos.quartile | Q4 |
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