Solving the puzzle: case examples of array comparative genomic hybridization as a tool to end the diagnostic odyssey.
We review 3 cases where array comparative genomic hybridization made a difference in the medical management of the patient, ended the diagnostic odyssey, predicted prognosis for the patient, and/or provided closure to the family. Comparative genomic hybridization is a useful tool for testing individuals with clinical examinations suggestive of a genetic syndrome but in which a specific syndrome may be difficult to pinpoint. The cost is similar to that of a standard karyotype but there is a higher yield in children and adults with clinical signs of a genetic syndrome.
Sanford School of Medicine of the University of South Dakota, Sioux Falls, SD, USA.
Amelia R
AR
Mroch
Jason D
JD
Flanagan
Quinn P
QP
Stein
D000168:Acrocephalosyndactylia / Q000175:diagnosis* / Q000235:genetics; D000293:Adolescent; D000328:Adult; D002675:Child, Preschool; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000175:diagnosis* / Q000235:genetics; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D002889:Chromosomes, Human, Pair 2; D002897:Chromosomes, Human, Pair 7; D055028:Comparative Genomic Hybridization / Q000379:methods; D005260:Female; D017353:Gene Deletion; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D059785:Karyotype; D008297:Male; D015518:Rett Syndrome / Q000175:diagnosis* / Q000235:genetics