Microarray comparative genomic hybridization and FISH studies of an unbalanced cryptic telomeric 2p deletion/16q duplication in a patient with mental retardation and behavioral problems

Ying Zou, Daniel L. Van Dyke, Jay W. Ellison

Research output: Contribution to journalArticle

Abstract

We describe a 7-year-old patient with pervasive developmental disorder and behavioral problems who has a de novo cryptic unbalanced der(2)t(2;16)(p25. 3;q24.3) chromosome resulting in deletion of distal 2p and duplication of distal 16q. These segmental aneusomies were detected by microarray comparative genomic hybridization analysis, as was a distal 17p13.3 duplication that was inherited from her father. FISH analysis using bacterial artificial chromosomes confirmed a deletion of approximately 1,700 kbp of DNA from 2pter (containing at least six complete genes or transcription units) and a duplication of ∼500 kbp from 16qter (including up to ten genes or transcription units). Several genes in these regions are plausible candidates for contributing to the patient's phenotype.

Original languageEnglish (US)
Pages (from-to)746-751
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Volume143
Issue number7
DOIs
StatePublished - Apr 1 2007
Externally publishedYes

Fingerprint

Comparative Genomic Hybridization
Intellectual Disability
Genes
Bacterial Artificial Chromosomes
Chromosomes, Human, Pair 3
Fathers
Phenotype
DNA
Problem Behavior
Trisomy 16q Chromosome 16

Keywords

  • 16qter duplication
  • 2pter deletion
  • FISH
  • Microarray comparative genomic hybridization
  • Unbalanced translocation

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

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AU - Van Dyke, Daniel L.

AU - Ellison, Jay W.

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AB - We describe a 7-year-old patient with pervasive developmental disorder and behavioral problems who has a de novo cryptic unbalanced der(2)t(2;16)(p25. 3;q24.3) chromosome resulting in deletion of distal 2p and duplication of distal 16q. These segmental aneusomies were detected by microarray comparative genomic hybridization analysis, as was a distal 17p13.3 duplication that was inherited from her father. FISH analysis using bacterial artificial chromosomes confirmed a deletion of approximately 1,700 kbp of DNA from 2pter (containing at least six complete genes or transcription units) and a duplication of ∼500 kbp from 16qter (including up to ten genes or transcription units). Several genes in these regions are plausible candidates for contributing to the patient's phenotype.

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