ArticleMolecular syndromology2013
Report on a patient with a 12q24.31 microdeletion inherited from an insulin-dependent diabetes mellitus father.
Article in Molecular syndromology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 17 citations in OpenAlex.
- Syndromic diabetes and hypergonadotropic hypogonadism in a boy with a 12q24.31-32 chromosomal deletion involvingClinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2026Article
- Comprehensive Assessment of the KDM2B-Associated Neurodevelopmental Disorder and the 12q24.31 Microdeletion Syndrome.Clinical genetics · 2026Article
- KDM2B variants in the CxxC domain impair its DNA-binding ability and cause a distinct neurodevelopmental syndrome.Human molecular genetics · 2025Article
- Mental retardation, seizures and language delay caused by new SETD1B mutations: Three case reports.World journal of clinical cases · 2024Article
- Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature.Genetics in medicine : official journal of the American College of Medical Genetics · 2023Article
- Impaired KDM2B-mediated PRC1 recruitment to chromatin causes defective neural stem cell self-renewal and ASD/ID-like behaviors.iScience · 2022Article
- Regulation of chemoconvulsant-induced seizures by store-operated Orai1 channels.The Journal of physiology · 2020Article
- Autism associated with 12q (12q24.31-q24.33) deletion: further report of an exceedingly rare disorder.Einstein (Sao Paulo, Brazil) · 2020Review
- A genome-wide DNA methylation signature for SETD1B-related syndrome.Clinical epigenetics · 2019Article
- An atypical 12q24.31 microdeletion implicates six genes including a histone demethylase KDM2B and a histone methyltransferase SETD1B in syndromic intellectual disability.Human genetics · 2016Article
- Contribution of copy number variants (CNVs) to congenital, unexplained intellectual and developmental disabilities in Lebanese patients.Molecular cytogenetics · 2015Article
- Association of a Missense ALDH2 Single Nucleotide Polymorphism (Glu504Lys) With Benign Prostate Hyperplasia in a Korean Population.International neurourology journal · 2013Article
- [The genetics of obesity - pathogenetic, clinical and diagnostic aspects].Developmental period medicineArticle
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Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We report a 2.3-year-old female patient with global developmental delay, infantile spasms, hypotonia, microcephaly, flat face, full cheeks, macroglossia, highly arched palate, retro-gnathia, narrow ear orifices, and café-au-lait spots. Molecular karyotyping revealed approximately a 1-Mb interstitial deletion of the long arm of one chromosome 12, del(12)(q24.31). The same deletion was identified in her father who presents insulin-dependent diabetes mellitus (IDDM) diagnosed at 14 years. Only one other patient with a similar de novo deletion has been reported previously [Mol Syndromol 2010;1:42-45]. A phenotype-genotype correlation is discussed, and the description of a novel rare microdeletion entity is raised.
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