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.
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 approximately 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.
Zou
Ying S
YS
Cytogenetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA.
Van Dyke
Daniel L
DL
Ellison
Jay W
JW
D001483:Base Sequence; D001526:Behavioral Symptoms / Q000235:genetics*; D002648:Child; D002885:Chromosomes, Human, Pair 16; D002889:Chromosomes, Human, Pair 2; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D009693:Nucleic Acid Hybridization; D020411:Oligonucleotide Array Sequence Analysis; D017384:Sequence Deletion