15q13.3 microdeletion syndrome
Evidence-based neurology checklist on 15q13.3 microdeletion syndrome: Genetics This is caused by a microdeletion of chromosome 15q13.3 The neurological phenotype is due to impairment of the CHRNA7 gene Developmental features Behavioural features Ophthalmic features Psychiatric features Other…
Genetics
- This is caused by a microdeletion of chromosome 15q13.3
- The neurological phenotype is due to impairment of the CHRNA7 gene
Developmental features
Behavioural features
Ophthalmic features
Psychiatric features
Other features
Differential diagnosis
References
- Ziats MN, Goin-Kochel RP, Berry LN, et al. The complex behavioral phenotype of 15q13.3 microdeletion syndrome. Genet Med 2016; 18:1111-1118.
- Ben-Shachar S, Lanpher B, German JR, et al. Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders. J Med Genet 2009; 46:382-388.
- Lowther C, Costain G, Stavropoulos DJ, et al. Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature. Genet Med 2015; 17:149-157.
- Masurel-Paulet A, Drumare I, Holder M, et al. Further delineation of eye manifestations in homozygous 15q13.3 microdeletions including TRPM1: a differential diagnosis of ceroid lipofuscinosis. Am J Med Genet A 2014; 164A:1537-1544.
- Beal JC. Case report: Neuronal migration disorder associated with chromosome 15q13.3 duplication in a boy with autism and seizures. J Child Neurol 2014; 29:NP186-NP188.
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