Fig. 1

Karyotype demonstrating Trisomy 22. This karyotype results demonstrating complex chromosome abnormality, with abnormalities of four different chromosomes. Most notable is trisomy 22, but the infant also has an apparently balanced translocation involving the long arms of chromosomes 5 and 6, as well as a subtle inversion on the short arm of chromosome 7. The 2 Mb deletion on one of the copies of chromosome 22 was not visible by karyotype but was identified on chromosomal microrarray (not shown). Arrows indicate abnormal chromosomes