A de novo 8.8-Mb deletion of 21q21.1-q21.3 in an autistic male with a complex rearrangement involving chromosomes 6, 10, and 21

American Journal of Medical Genetics, Part A

Volumn 152, Issue 1, 2010, Pages 196-202

  Haldeman Englert, Chad R ^a   Chapman, Kimberly A ^a   Kruger, Hillary ^a   Geiger, Elizabeth A ^a   McDonald McGinn, Donna M ^a   Rappaport, Eric ^a   Zackai, Elaine H ^a,b   Spinner, Nancy B ^a,b   Shaikh, Tamim H ^a,b  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

Complex chromosome rearrangement; Microarray; Microdeletion; Pervasive developmental disorder not otherwise specified

Indexed keywords

GENOMIC DNA; NERVE CELL ADHESION MOLECULE; GLUTAMATE RECEPTOR 5; NERVE CELL ADHESION MOLECULE 2; UNCLASSIFIED DRUG;

ARTICLE; ATTENTION DEFICIT DISORDER; AUTISM; BRAIN DEVELOPMENT; BRAIN FUNCTION; CASE REPORT; CHILD; CHROMOSOME 10; CHROMOSOME 21; CHROMOSOME 21Q; CHROMOSOME 6; CHROMOSOME ANALYSIS; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CHROMOSOME PAINTING; CHROMOSOME REARRANGEMENT; CHROMOSOME TRANSLOCATION; COMPLEX CHROMOSOME REARRANGEMENT; COMPUTER PROGRAM; DNA MICROARRAY; FLUORESCENCE IN SITU HYBRIDIZATION; GENOME ANALYSIS; GENOMIC IN SITU HYBRIDIZATION; HUMAN; HUMAN CELL; IMAGE ANALYSIS; KARYOTYPE 46,XY; KARYOTYPING; MALE; METAPHASE CHROMOSOME; MICROARRAY ANALYSIS; PERVASIVE DEVELOPMENTAL DISORDER NOT OTHERWISE SPECIFIED; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SCHOOL CHILD; SOCIAL INTERACTION; SPEECH DISORDER; CHROMOSOME 9; CHROMOSOME DELETION 21Q21; CONTROLLED STUDY; GENE ACTIVITY; GENE DELETION; HETEROZYGOSITY LOSS; HYPOTELORISM; PALATE MALFORMATION; PHENOTYPE;

AUTISTIC DISORDER; CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 10; CHROMOSOMES, HUMAN, PAIR 21; CHROMOSOMES, HUMAN, PAIR 6; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS;

EID: 75149156576     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33176     Document Type: Article

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