TRISOMY 5Q12-]Q13.3 IN A PATIENT WITH ADD(13Q) - CHARACTERIZATION OF AN INTERCHROMOSOMAL INSERTION BY FORWARD AND REVERSE CHROMOSOME PAINTING

We report on a patient with azoospermia, mild mental retardation, and minor physical anomalies. Chromosome analysis demonstrated the presenc e of additional material on the long arm of one chromosome 13. Forward chromosome painting using chromosome-specific libraries showed an ins ertion of material from chromosome 5. Further characterization with fl ow sorting of the aberrant chromosome and amplification by DOP-PCR fol lowed by reverse chromosome painting showed specific trisomy of 5q12-- >q13.3. (C) 1997 Wiley-Liss, Inc.