Co-occurrence of 16p13.11 microdeletion and ring chromosome 20 syndrome
نویسندگان
چکیده
منابع مشابه
Co-occurrence of 16p13.11 microdeletion and ring chromosome 20 syndrome
A previously healthy 16-year-old girl of Jamaican descent presented with a 1-year history of progressive daytime somnolence, sleep attacks (sudden irresistible episodes of sleep), and paroxysms of altered level of consciousness. Her parents also reported irritability, mood lability, and hyperphagia. Her history was notable for a mild learning disability diagnosed at 9 years of age. Before sympt...
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Chromosome 15q24 microdeletion syndrome is a recently described rare microdeletion syndrome that has been reported in 19 individuals. It is characterized by growth retardation, intellectual disability, and distinct facial features including long face with high anterior hairline, hypertelorism, epicanthal folds, downslanting palpebral fissures, sparse and broad medial eyebrows, broad and/or depr...
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A four-year-old boy with ring chromosome 17 presenting with early-onset, pharmacoresistant epilepsy underwent repeated 24-hour video-EEG monitoring and cytogenetic analyses, including fluorescent in situ hybridization with telomeric and locus-specific probes of chromosome 17. Epilepsy was characterized by nocturnal motor seizures and by prolonged diurnal electrical status epilepticus. The 46, X...
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Ring chromosome 20 [r(20)] syndrome is a chromosomal disorder characterized by epilepsy and intellectual disability. Distinctive electroclinical features and wakefulness EEG patterns have been described. The EEG features of sleep have not yet been evaluated. We studied the pattern of sleep in six patients aged 2-59 years who underwent at least one polysomnographic recording. Their sleep pattern...
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ژورنال
عنوان ژورنال: Neurology Genetics
سال: 2016
ISSN: 2376-7839
DOI: 10.1212/nxg.0000000000000043