Mosaic ring 20 with no detectable deletion by FISH analysis: Characteristic seizure disorder and literature review

American Journal of Medical Genetics, Part A

Volumn 140, Issue 15, 2006, Pages 1696-1706

  Zon, Ying S ^a,c   Van Dyke, Daniel L ^a   Thorland, Erik C ^a   Chhabra, Harinderpal S ^a   Michels, Virginia V ^a   Keefe, Jeannette G ^a   Lega, Melanie A ^a   Feely, Molly A ^b   Uphoff, Timothy S ^a   Jalal, Syed M ^a  

^a MAYO CLINIC   (United States)

^b Duluth Internal Medicine Associates   (United States)

^c MAYO CLINIC ROCHESTER   (United States)

Author keywords

Epilepsy; Mosaicism; Ring chromosome 20; Subtelomere; Telomere

Indexed keywords

ADULT; BEHAVIOR DISORDER; CASE REPORT; CHRNA4 GENE; CHROMOSOME 20P; CHROMOSOME 20Q; CHROMOSOME DELETION; CHROMOSOME DELETION 20P; CHROMOSOME DELETION 20Q; CHROMOSOME MOSAICISM; CLINICAL FEATURE; COGNITIVE DEFECT; COMPLEX PARTIAL SEIZURE; EPILEPTIC STATE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE LOCUS; GENE REARRANGEMENT; GENE SILENCING; GRAND MAL SEIZURE; HUMAN; HUMAN CELL; KCNQ2 GENE; MOSAIC RING CHROMOSOME 20; PHENOTYPE; PRIORITY JOURNAL; QUANTITATIVE ASSAY; REVIEW; SEIZURE; SYMPTOM; TELOMERE; TONIC CLONIC SEIZURE;

ADULT; CHROMOSOMES; CHROMOSOMES, HUMAN, PAIR 20; EPILEPSY; FEMALE; GENE DELETION; GENETIC TECHNIQUES; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MODELS, GENETIC; MOSAICISM; PHENOTYPE; RING CHROMOSOMES; SEIZURES;

EID: 33746648086     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31332     Document Type: Review

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