Presentation
Total monosomy of X chromosome was present in 40.5%. The most frequently associated comorbidity was opthalmological (50%), with heart defects in 23.8%. [dialnet.unirioja.es]
Familial partial trisomy 15q11-13 presenting as intractable epilepsy in the child and schizophrenia in the mother. Eur J Paediatr Neurol. 2011;15:230–3. [ncbi.nlm.nih.gov]
Entire Body System
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Developmental Delay
Mutation of HERC2 causes developmental delay with Angelman-like features. J Med Genet. 2013;50:65–73. [ncbi.nlm.nih.gov]
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Epilepsy
CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy. Neurology. 2008;71:997–9. [ncbi.nlm.nih.gov]
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Short Stature
English Background and objective Turner syndrome (TS) is characterized by short stature, gonadal dysgenesis, and total or partial loss of X chromosome. [dialnet.unirioja.es]
Cardiovascular
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Heart Disease
disease: a series of 52 patients. [ncbi.nlm.nih.gov]
Neurologic
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Seizure
Risk of sudden unexpected death in epilepsy in patients given adjunctive antiepileptic treatment for refractory seizures: a meta-analysis of placebo-controlled randomised trials. Lancet Neurol. 2011;10:961–8. [ncbi.nlm.nih.gov]
Treatment
Conclusions Short stature was an important clinical sign for the diagnosis of TS, accompanied in some cases by other findings, with good response to GH treatment. [dialnet.unirioja.es]
Risk of sudden unexpected death in epilepsy in patients given adjunctive antiepileptic treatment for refractory seizures: a meta-analysis of placebo-controlled randomised trials. Lancet Neurol. 2011;10:961–8. [ncbi.nlm.nih.gov]
Prevention
Prevention of sudden unexpected death in epilepsy: a realistic goal? Epilepsia. 2013;54 Suppl 2:23–8. [PubMed: 23646967] Samaco RC, Hogart A, LaSalle JM. [ncbi.nlm.nih.gov]