From: Copy number variants prioritization after array-CGH analysis – a cohort of 1000 patients
Syndrome | Chromosome | OMIM ID | Number of cases |
---|---|---|---|
Chromosome 1q21.1 deletion syndrome | 1q21.1 | 612474 | 3 na |
Chromosome 1q21.1 duplication syndrome | 1q21.1 | 612475 | 1 na |
Chromosome 3q29 deletion syndrome | 3q29 | 609425 | 1 mat |
Chromosome 3q29 duplication syndrome | 3q29 | 611936 | 2 (1pat, 1na) |
Wolf-Hirschhorn syndrome | 4p16.3 | 194190 | 1 dn |
Cri du Chat syndrome | 5p | 123450 | 1 na |
Williams-Beuren region duplication syndrome | 7q11.23 | 609757 | 2 (1dn, 1na) |
Cohen syndrome | 8q22.2 | 216550 | 1 na |
Chromosome 9p deletion syndrome | 9p | 158170 | 1 dn |
Kleefstra syndrome | 9q34.3 | 610253 | 1 na |
Chromosome15q11q13 duplication syndrome | 15q11q13 | 608636 | 1 na |
Chromosome 15q13.3 deletion syndrome | 15q13.3 | 612001 | 1 na |
Chromosome 16p11.2 deletion syndrome | 16p11.2 | 611913 | 5 (1pat, 2dn, 2na) |
Chromosome 16p11.2 duplication syndrome | 16p11.2 | 614671 | 3 (1dn, 2na) |
Smith –Magenis syndrome | 17p11.2 | 182290 | 1 na |
Potocki-Lupski syndrome | 17p11.2 | 610883 | 2 dn |
Chromosome 17q12 duplication syndrome | 17q11.2 | 614526 | 2 (1mat,1na) |
Chromosome 19q13.11 deletion syndrome | 19q13.11 | 613026 | 1 dn |
Chromosome 22q11.2 deletion syndrome, distal | 22q11.2 | 611867 | 5 (1pat, 3dn, 1na) |
Chromosome 22q11.2 duplication syndrome | 22q11.2 | 608363 | 3 (1pat, 1dn, 1na) |
Triple X | X | 1dn | |
Klinefelter | X | 1dn |