Molecular analysis of ring chromosome 20 syndrome reveals two distinct groups of patients

Journal of Medical Genetics

Volumn 48, Issue 1, 2011, Pages 1-9

  Conlin, Laura K ^a   Kramer, Whitney ^a   Hutchinson, Anne L ^a   Li, Xia ^a   Riethman, Harold ^b   Hakonarson, Hakon ^b,c   Mulley, John C ^d,e   Scheffer, Ingrid E ^f   Berkovic, Samuel F ^f   Hosain, Syed A ^g   Spinner, Nancy B ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

^c CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^d WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^e UNIVERSITY OF ADELAIDE   (Australia)

^f UNIVERSITY OF MELBOURNE   (Australia)

^g ROBERT WOOD JOHNSON MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ARTICLE; BLOOD SAMPLING; CELL LINE; CHILD; CHROMOSOME 20; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CLINICAL ARTICLE; COHORT ANALYSIS; COMORBIDITY; CONTROLLED STUDY; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HUMAN CELL; HUMAN TISSUE; MEIOSIS; MICROARRAY ANALYSIS; MOSAICISM; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RING CHROMOSOME; SINGLE NUCLEOTIDE POLYMORPHISM; TELOMERIC REPEAT AMPLIFICATION PROTOCOL;

AGE OF ONSET; CELLS, CULTURED; CHROMOSOME BANDING; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 20; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; POLYMORPHISM, SINGLE NUCLEOTIDE; RING CHROMOSOMES; SEIZURES; SYNDROME;

EID: 78751702849     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2010.080382     Document Type: Article

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