A ring-20 chromosome.
نویسندگان
چکیده
منابع مشابه
Ring Chromosome 18: A Case Report
Ring chromosomes are rare chromosomal disorders that usually appear to occur de novo. A ring chromosome forms when due to deletion both ends of chromosome fuse with each other. Depending on the amount of chromosomal deletion, the clinical manifestations may be different. So, ring 18 syndrome is characterized by severe mental growth retardation as well as microcephaly, brain and ocular malformat...
متن کاملEpilepsy and ring chromosome 20: case report.
We present the clinical, electroencephalographic, neuroimaging (brain magnetic resonance image - MRI and spectroscopy by MRI) and cytogenetic findings of a young male patient with a rare cytogenetic anomaly characterised by a de novo 46,XY,r(20)(p13q13.3) karyotype. He presents with mental retardation, emotional liability, and strabismus, without any other significant dysmorphies. There are bra...
متن کاملSleep in ring chromosome 20 syndrome: a peculiar electroencephalographic pattern.
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...
متن کاملRing chromosome 17 epilepsy may resemble that of ring chromosome 20 syndrome.
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...
متن کاملCo-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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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1972
ISSN: 1468-6244
DOI: 10.1136/jmg.9.3.377