Genotype-phenotype association studies of chromosome 8p inverted duplication deletion syndrome

Gene S. Fisch, Ryan Davis, Janey Youngblom, Jeffrey Gregg

Research output: Contribution to journalArticle

12 Citations (Scopus)

Abstract

Individuals diagnosed with chromosome 8p inverted duplication deletion (invdupdel(8p)) manifest a wide range of clinical features and cognitive impairment. The purpose of this study is to employ array CGH technology to define more precisely the cytogenetic breakpoints and regions of copy number variation found in several individuals with invdupdel(8p), and compare these results with their neuropsychological characteristics. We examined the cognitive-behavioral features of two male and two female children, ages 3-15 years, with invdupdel(8p). We noted cognitive deficits that ranged from mild to severe, and adaptive behavior composites that ranged from significantly to substantially lower than adequate levels. CARS scores, a measure of autistic behavior, identified three children with autism or autistic-like features. Three of the four children exhibited attention deficits and hyperactivity consistent with a DSM-IV-TR diagnosis of ADHD. One child showed extreme emotional lability. Interestingly, intellectual disability was not correlated with deletion size, nor was the deletion location associated with the autistic phenotype. On the other hand, the duplication length in 8p21.1/8p22 was associated with cognitive deficit. In addition, a small locus of over-expression in 8p21.3 was common for all three participants diagnosed as autistic. A limitation of the study is its small sample size. Further analyses of the deleted and over-expressed regions are needed to ascertain the genes involved in cognitive function and, possibly, autism.

Original languageEnglish (US)
Pages (from-to)373-380
Number of pages8
JournalBehavior Genetics
Volume41
Issue number3
DOIs
StatePublished - May 2011

Fingerprint

Genetic Association Studies
phenotype
chromosome
genotype
Chromosomes
chromosomes
Autistic Disorder
cytogenetics
Psychological Adaptation
disability
cognition
Cytogenetics
Intellectual Disability
Diagnostic and Statistical Manual of Mental Disorders
Sample Size
Cognition
Technology
Phenotype
loci
Trisomy 8p Chromosome 8

Keywords

  • Autism
  • CGH microarray
  • Intellectual disability
  • Inverted duplication deletion 8p21-23
  • Subtelomeric deletion

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)
  • Ecology, Evolution, Behavior and Systematics

Cite this

Genotype-phenotype association studies of chromosome 8p inverted duplication deletion syndrome. / Fisch, Gene S.; Davis, Ryan; Youngblom, Janey; Gregg, Jeffrey.

In: Behavior Genetics, Vol. 41, No. 3, 05.2011, p. 373-380.

Research output: Contribution to journalArticle

Fisch, Gene S. ; Davis, Ryan ; Youngblom, Janey ; Gregg, Jeffrey. / Genotype-phenotype association studies of chromosome 8p inverted duplication deletion syndrome. In: Behavior Genetics. 2011 ; Vol. 41, No. 3. pp. 373-380.
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