Chromosome 20 Ring

Common Name(s)

Chromosome 20 Ring, Ring Chromosome 20

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Chromosome 20 Ring" for support, advocacy or research.

Unique - Understanding Chromosome Disorders

Our mission is to inform, support and alleviate the isolation of anyone affected by a rare chromosome disorder and to raise public awareness.

Last Updated: 21 Jul 2014

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Chromosome 20 Ring" for support, advocacy or research.

Unique - Understanding Chromosome Disorders

Our mission is to inform, support and alleviate the isolation of anyone affected by a rare chromosome disorder and to raise public awareness.

http://www.rarechromo.org

Last Updated: 21 Jul 2014

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General Support Organizations

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General Resources

Little Yellow Book

A parents guide to rare chromosome disorders

Updated 4 Mar 2013

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Chromosome 20 Ring" returned 8 free, full-text research articles on human participants. First 3 results:

Sleep in ring chromosome 20 syndrome: a peculiar electroencephalographic pattern.
 

Author(s): Elena Zambrelli, Aglaia Vignoli, Lino Nobili, Giuseppe Didato, Massimo Mastrangelo, Katherine Turner, Maria Paola Canevini

Journal: Funct. Neurol.. ;28(1):47-53.

 

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 ...

Last Updated: 4 Jun 2013

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The evolving electroclinical syndrome of "epilepsy with ring chromosome 20".
 

Author(s): Ashalatha Radhakrishnan, Ramshekhar N Menon, S Hariharan, Kurupath Radhakrishnan

Journal: Seizure. 2012 Mar;21(2):92-7.

 

Ring chromosome 20 {r(20)}--manifests as a refractory epilepsy syndrome with complex partial seizures (CPS), nocturnal frontal lobe seizures and non-convulsive status epilepticus (NCSE) in the majority of cases. r20 lacks a specific phenotypic expression or dysmorphic features. Psychomotor ...

Last Updated: 3 Feb 2012

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Genetic investigations on 8 patients affected by ring 20 chromosome syndrome.
 

Author(s): Daniela Giardino, Aglaia Vignoli, Lucia Ballarati, Maria Paola Recalcati, Silvia Russo, Nicole Camporeale, Margherita Marchi, Palma Finelli, Patrizia Accorsi, Lucio Giordano, Francesca La Briola, Valentina Chiesa, Maria Paola Canevini, Lidia Larizza

Journal:

 

Mosaic Chromosome 20 ring [r(20)] is a chromosomal disorder associated with a rare syndrome characterized by a typical seizure phenotype, a particular electroclinical pattern, cognitive impairment, behavioural problems and absence of a consistent pattern of dysmorphology. The pathogenic ...

Last Updated: 2 Nov 2010

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Chromosome 20 Ring" returned 2 free, full-text review articles on human participants. First 3 results:

Epilepsy and ring chromosome 20: case report.
 

Author(s): Marleide da Mota Gomes, Irene Lucca, Sonia Alonso Monteiro Bezerra, Juan Llerena, Denise Madeira Moreira

Journal: Arq Neuropsiquiatr. 2002 Sep;60(3-A):631-5.

 

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 ...

Last Updated: 23 Sep 2002

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Ring chromosome 20 and nonconvulsive status epilepticus. A new epileptic syndrome.
 

Author(s): Y Inoue, T Fujiwara, K Matsuda, H Kubota, M Tanaka, K Yagi, K Yamamori, Y Takahashi

Journal: Brain. 1997 Jun;120 ( Pt 6)():939-53.

 

Six cases of epilepsy associated with ring chromosome 20 are presented. The study of these cases and 20 cases reported in the literature revealed that they constitute a distinct epileptic syndrome: frequent seizures consisting of a prolonged confusional state, with or without additional ...

Last Updated: 1 Aug 1997

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.