Psychiatric syndromes in individuals with chromosome 18 abnormalities

Juan Zavala, Mercedes Ramirez, Rolando Medina, Patricia Heard, Erika Carter, AnaLisa Crandall, Daniel Hale, Jannine D Cody, Michael Escamilla

Research output: Contribution to journalArticle

9 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)837-845
Number of pages9
JournalAmerican Journal of Medical Genetics, Part B: Neuropsychiatric Genetics
Volume153
Issue number3
DOIs
StatePublished - Apr 2010

Fingerprint

Chromosomes, Human, Pair 18
Chromosome Aberrations
Psychiatry
Anxiety
Chromosome Deletion
Chromosomes
Chromosome Disorders
Comparative Genomic Hybridization
Depressive Disorder
Oligonucleotide Array Sequence Analysis
Mood Disorders
Bipolar Disorder
Hearing Loss
Psychotic Disorders
Consensus
Depression
Technology
Genes

Keywords

  • 18p
  • 18q
  • Deletions
  • Psychiatric disorders
  • Tetrasomy

ASJC Scopus subject areas

  • Genetics(clinical)
  • Psychiatry and Mental health
  • Cellular and Molecular Neuroscience

Cite this

Zavala, J., Ramirez, M., Medina, R., Heard, P., Carter, E., Crandall, A., ... Escamilla, M. (2010). Psychiatric syndromes in individuals with chromosome 18 abnormalities. American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, 153(3), 837-845. https://doi.org/10.1002/ajmg.b.31047

Psychiatric syndromes in individuals with chromosome 18 abnormalities. / Zavala, Juan; Ramirez, Mercedes; Medina, Rolando; Heard, Patricia; Carter, Erika; Crandall, AnaLisa; Hale, Daniel; Cody, Jannine D; Escamilla, Michael.

In: American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, Vol. 153, No. 3, 04.2010, p. 837-845.

Research output: Contribution to journalArticle

Zavala, J, Ramirez, M, Medina, R, Heard, P, Carter, E, Crandall, A, Hale, D, Cody, JD & Escamilla, M 2010, 'Psychiatric syndromes in individuals with chromosome 18 abnormalities', American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, vol. 153, no. 3, pp. 837-845. https://doi.org/10.1002/ajmg.b.31047
Zavala, Juan ; Ramirez, Mercedes ; Medina, Rolando ; Heard, Patricia ; Carter, Erika ; Crandall, AnaLisa ; Hale, Daniel ; Cody, Jannine D ; Escamilla, Michael. / Psychiatric syndromes in individuals with chromosome 18 abnormalities. In: American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics. 2010 ; Vol. 153, No. 3. pp. 837-845.
@article{a2b0f96b6dbb4d6dae6c226c49cefd15,
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.",
keywords = "18p, 18q, Deletions, Psychiatric disorders, Tetrasomy",
author = "Juan Zavala and Mercedes Ramirez and Rolando Medina and Patricia Heard and Erika Carter and AnaLisa Crandall and Daniel Hale and Cody, {Jannine D} and Michael Escamilla",
year = "2010",
month = "4",
doi = "10.1002/ajmg.b.31047",
language = "English (US)",
volume = "153",
pages = "837--845",
journal = "American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics",
issn = "1552-4841",
publisher = "Wiley-Liss Inc.",
number = "3",

}

TY - JOUR

T1 - Psychiatric syndromes in individuals with chromosome 18 abnormalities

AU - Zavala, Juan

AU - Ramirez, Mercedes

AU - Medina, Rolando

AU - Heard, Patricia

AU - Carter, Erika

AU - Crandall, AnaLisa

AU - Hale, Daniel

AU - Cody, Jannine D

AU - Escamilla, Michael

PY - 2010/4

Y1 - 2010/4

N2 - 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.

AB - 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.

KW - 18p

KW - 18q

KW - Deletions

KW - Psychiatric disorders

KW - Tetrasomy

UR - http://www.scopus.com/inward/record.url?scp=77949920443&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=77949920443&partnerID=8YFLogxK

U2 - 10.1002/ajmg.b.31047

DO - 10.1002/ajmg.b.31047

M3 - Article

C2 - 19927307

AN - SCOPUS:77949920443

VL - 153

SP - 837

EP - 845

JO - American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics

JF - American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics

SN - 1552-4841

IS - 3

ER -