Periventricular Heterotopia in Common Microdeletion Syndromes
نویسندگان
چکیده
منابع مشابه
Periventricular heterotopia in common microdeletion syndromes.
Periventricular heterotopia (PH) is a brain malformation characterised by heterotopic nodules of neurons lining the walls of the cerebral ventricles. Mutations in FLNA account for 20-24% of instances but a majority have no identifiable genetic aetiology. Often the co-occurrence of PH with a chromosomal anomaly is used to infer a new locus for a Mendelian form of PH. This study reports four PH p...
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A 34-year-old epilepsy woman had first seizure when aged 14. Seizure patterns are mainly simple partial type, presented by a sense of air within chest wall rising to head or focal twitching of right hand. She also had generalized tonicclonic seizures before. In recent four years, she did not experience generalized seizure although simple partial seizures were noted average four to five times a ...
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Microdeletion syndromes are due to submicroscopic chromosomal deletions and display a complex clinical and behavioral phenotype. This occurs because of an imbalance of normal dosage of genes that are present in that segment of chromosome. Many clinical characteristics of the well-known microdeletion syndromes are very specific and have been well defined. It is not always possible to detect thes...
متن کاملPeriventricular heterotopia associated with chromosome 5p anomalies.
Periventricular heterotopia (PH) is characterized by neuronal nodules along the lateral ventricles. Whereas mutations in X-linked FLNA cause such cortical malformations, the authors report two cases of PH localizing to chromosome 5p. Both subjects have complex partial seizures. MRI demonstrated bilateral nodular PH, with subcortical heterotopia or focal gliosis. FISH identified a duplication of...
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BACKGROUND Periventricular nodular heterotopia (PNH) is a rare congenital anomaly of the brain presenting as nodular heterotopia along the paraventricular region. Ten cases of PNH complicated by aortic aneurysm have been reported in the literature, and 9 of them also had symptoms of Ehlers-Danlos syndrome (EDS). This study investigated the association of PNH and cardiovascular anomalies in Asia...
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ژورنال
عنوان ژورنال: Molecular Syndromology
سال: 2010
ISSN: 1661-8777,1661-8769
DOI: 10.1159/000274491