Genomic features of chromosomal abnormalities and cryptic alterations. A) Genome and chromosome views and correlated chromosomal rearrangements for case #4 show large deletion in 5q, truncated deletions in 7p, cryptic deletions in 9p23 and 17q11 (arrows), large duplication and deletion in 17q, a loss of a chromosome 18, segmental duplication and deletion in 22q. The 17q12-q21.31 duplication and 17q21.31-q24.1 deletion may be translocated onto the deleted 5q, and the 22q11.21-q12.3 duplication and 22q13.31-qter deletion may be initiated from a 22q/22q translocation. B) Left panel shows a cryptic genomic deletion of 17q11 in case #22 and FISH using probes for the NF1 and RHOT1 genes confirmed the NF1 gene deletion. Middle panel shows a deletion of 17q11.2 including the NF1 and RHOT1 genes in case #5 and a 17q11.2 deletion distal to the NF1 gene in case #13. Right panel shows complex 11q deletion and amplification involving the MLL gene at 11q23.3 in case #1.