title: Psychiatric syndromes in individuals with chromosome 18 abnormalities.
abstract: Chromosome 18 abnormalities are associated with a range of physical abnormalities such as short stature and hearing impairments. Psychiatric manifestations have also been observed. This study focuses on the presentations of psychiatric syndromes as they relate to specific chromosomal abnormalities of chromosome 18. Twenty-five subjects (13 with an 18q deletion, 9 with 18p tetrasomy, and 3 with an 18p deletion), were interviewed by psychiatrists (blind to specific chromosomal abnormality) using the DIGS (subjects 18 and older) or KSADS-PL (subjects under 18). A consensus best estimation diagnostic process was employed to determine psychiatric syndromes. Oligonucleotide Array Comparative Genomic Hybridization (Agilent Technologies) was utilized to define specific regions of chromosome 18 that were deleted or duplicated. These data were further analyzed to determine critical regions of the chromosome as they relate to phenotypic manifestations in these subjects. 58.3% of the chromosome 18q- deletion subjects had depressive symptoms, 58.3% had anxiety symptoms, 25% had manic symptoms, and 25% had psychotic symptoms. 66.6% of the chromosome 18p- deletion subjects had anxiety symptoms, and none had depressive, manic, or psychotic symptoms. Fifty percent of the chromosome 18p tetrasomy subjects had anxiety symptoms, 12.5% had psychotic symptoms, and 12.5% had a mood disorder. All three chromosomal disorders were associated with high anxiety rates. Psychotic, manic and depressive disorders were seen mostly in 18q- subjects and this may be helpful in narrowing regions for candidate genes for these psychiatric conditions.
authors.affiliation: Department of Psychiatry, South Texas Psychiatric Genetics Research Center, University of Texas Health Science Center at San Antonio, 454 Soledad, Suite 200, San Antonio, TX 78205, USA.
authors.forename: Juan
authors.initials: J
authors.lastname: Zavala
authors.forename: Mercedes
authors.initials: M
authors.lastname: Ramirez
authors.forename: Rolando
authors.initials: R
authors.lastname: Medina
authors.forename: Patricia
authors.initials: P
authors.lastname: Heard
authors.forename: Erika
authors.initials: E
authors.lastname: Carter
authors.forename: AnaLisa
authors.initials: A
authors.lastname: Crandall
authors.forename: Daniel
authors.initials: D
authors.lastname: Hale
authors.forename: Jannine
authors.initials: J
authors.lastname: Cody
authors.forename: Michael
authors.initials: M
authors.lastname: Escamilla
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D011618:Psychotic Disorders / Q000175:diagnosis / Q000235:genetics*; D013577:Syndrome; D055815:Young Adult