A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33

PLoS ONE

Volumn 5, Issue 8, 2010, Pages

  Traylor, Ryan N ^a   Bruno, Damien L ^b,c   Burgess, Trent ^b,c   Wildin, Robert ^d   Spencer, Anne ^d   Ganesamoorthy, Devika ^b,c   Amor, David J ^b,c   Hunter, Matthew ^b   Caplan, Michael ^e   Rosenfeld, Jill A ^a   Theisen, Aaron ^a   Torchia, Beth S ^a   Shaffer, Lisa G ^a   Ballif, Blake C ^a   Slater, Howard R ^b,c  

^a PerkinElmer   (United States)

^b ROYAL CHILDREN'S HOSPITAL   (Australia)

^c UNIVERSITY OF MELBOURNE   (Australia)

^d St Luke's Boise Regional Medical Center   (United States)

^e NORTHSHORE UNIVERSITY HEALTHSYSTEM   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTISM; CHILD; CHROMOSOME 20Q; CHROMOSOME DELETION; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL MALFORMATION; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; FACE DYSMORPHIA; FEMALE; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INFANT; LANGUAGE DISABILITY; MALE; MENTAL DEFICIENCY; PHENOTYPE; PRESCHOOL CHILD; SCHOOL CHILD; SEIZURE; SPEECH DISORDER; BEHAVIOR; CASE REPORT; CHROMOSOME 20; DNA MICROARRAY; GENETICS; PATHOPHYSIOLOGY;

BEHAVIORAL SYMPTOMS; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 20; DEVELOPMENTAL DISABILITIES; FEMALE; GENOTYPE; HUMANS; LANGUAGE DISORDERS; MALE; MENTAL RETARDATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PHENOTYPE; SEIZURES; SPEECH DISORDERS;

EID: 77957909505     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0012462     Document Type: Article

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