title: 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.
abstract: We report here on a normal-appearing male with pervasive developmental disorder who was found to have a de novo, apparently balanced complex rearrangement involving chromosomes 6, 10, and 21: 46,XY,ins(21;10)(q11.2;p11.2p13)t(6;21)(p23;q11.2). Further analysis by high-density oligonucleotide microarray was performed, showing an 8.8-Mb heterozygous deletion at 21q21.1-q21.3. Interestingly, the deletion is distal to the translocation breakpoint on chromosome 21. The deletion involves 19 genes, including NCAM2 and GRIK1, both of which are associated with normal brain development and function, and have been considered as possible candidate genes in autism and other neurobehavioral disorders. This case underscores the utility of genomewide microarray analysis for the detection of copy number alterations in patients with apparently balanced complex rearrangements and abnormal phenotypes.
authors.affiliation: Division of Human Genetics, The Children's Hospital of Philadelphia, 1002 ARC, 3615 Civic Center Blvd., Philadelphia, PA 19104, USA.
authors.forename: Chad R
authors.initials: CR
authors.lastname: Haldeman-Englert
authors.forename: Kimberly A
authors.initials: KA
authors.lastname: Chapman
authors.forename: Hillary
authors.initials: H
authors.lastname: Kruger
authors.forename: Elizabeth A
authors.initials: EA
authors.lastname: Geiger
authors.forename: Donna M
authors.initials: DM
authors.lastname: McDonald-McGinn
authors.forename: Eric
authors.initials: E
authors.lastname: Rappaport
authors.forename: Elaine H
authors.initials: EH
authors.lastname: Zackai
authors.forename: Nancy B
authors.initials: NB
authors.lastname: Spinner
authors.forename: Tamim H
authors.initials: TH
authors.lastname: Shaikh
mesh_terms: D001321:Autistic Disorder / Q000235:genetics*; D002648:Child; D002872:Chromosome Deletion; D002879:Chromosomes, Human, Pair 10; D002891:Chromosomes, Human, Pair 21; D002896:Chromosomes, Human, Pair 6; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D020411:Oligonucleotide Array Sequence Analysis