Table 1.
Aberrations that overlap with critical genomic regions for microdeletion and microduplication syndromes, or encompass genes implicated in human diseases.
| Cytoband | Syndrome/Disease | OMIM No. | Gene(s) | No. of deletion cases | No. of duplication cases |
|---|---|---|---|---|---|
| 1p36 | 1p36 microdeletion | 607872 | 4 | – | |
| 1q21.1 | 1q21.1 deletion/duplication1 | 612474/612475 | Contiguous gene deletion syndrome, incl. GJA5 | 2 | 2 |
| 1q43-q44 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome | 603387 | AKT3 | 1 | – |
| 2p16.3 | 2p16.3 deletion | 614332 | NRXN1 | 1 | – |
| 2qq11.2 | 2q11.2 microdeletion | – | LMAN2L,ARID5A | 1 | – |
| 2q31.2 | 2q31.2 deletion | 612345 | Contiguous gene deletion syndrome | 1 | – |
| 2q37 | 2q37 microdeletion | 600430 | Contiguous gene deletion syndrome | 1 | – |
| 3p25-pter | Distal 3p deletion | 613792 | Contiguous gene deletion syndrome | 1 | – |
| 3p25.3 | Von Hippel–Lindau syndrome | 193300 | VHL | 1 | – |
| 3p13-p14 | Waardenburg syndrome | 193510 | MITF | 1 | – |
| 3q22.3 | Blepharophimosis-ptosis-epicanthus inversus syndrome | 110100 | FOXL2 | 1 | 1 |
| 4p16.3 | Wolf–Hirschhorn syndrome | 194190 | Contiguous gene deletion syndrome | 1 | 2 |
| 4q22.1 | Parkinson disease | 168601 | SNCA | – | 2 |
| 5p15.2 | Cri-du-Chat syndrome | 123450 | Contiguous gene deletion syndrome, incl. TERT | 2 | – |
| 5p15.2 | Mental retardation in Cri-du-Chat syndrome | 123450 | CTNND2 | 1 | – |
| 5q35.2-q35.3 | Sotos syndrome/5q35 microduplication | 117550/– | NSD1 | 22 | 1 |
| 6q25.1-q25.2 | Emery–Dreifuss muscular dystrophy 4, autosomal dominant | 612998 | SYNE1 | 1 | – |
| 7p21.1 | Saethre–Chotzen syndrome | 101400 | TWIST1 | 1 | – |
| 7p14.1 | Greig cephalopolysyndactyly syndrome/Pallister–Hall syndrome | 175700/146510 | GLI3 | 1 | – |
| 7q11.23 | Williams–Beuren syndrome | 609757 | Contiguous gene deletion syndrome, incl. ELN | 1 | – |
| 7q21.2-q21.3 | Split-hand/foot malformation 1 with sensorineural hearing loss | 220600 | DLX5 | 1 | – |
| 7q36.3 | Polydactyly, preaxial II | 174500 | LMBR1 | 1 | – |
| 8q24.13 | Spastic paraplegia 8, autosomal dominant | 603563 | KIAA0196 | 1 | – |
| 10q23 | Juvenile polyposis syndrome + 10q23 deletion | 174900/612242 | NRG3,GRID1,PTEN,BMPR1A | 1 | – |
| 10q26 | 10q26 deletion | 609625 | Contiguous gene deletion syndrome | 1 | 1 |
| 11p15.5 | Beckwith–Wiedemann/Silver–Russell syndrome | 130650/180860 | Contiguous gene deletion syndrome, incl. CDKN1C,H19,LIT1 | 3 | 1 |
| 11q23 | Jacobsen syndrome/Thrombocytopenia, Paris-Trousseau type | 147791/188025 | Contiguous gene deletion syndrome | 1 | – |
| 12p12.1 | DD, language delay, behavioral problems | – | SOX5 | 1 | – |
| 15q11.24 | Prader–Willi/Angelman syndrome (Type 1) | 176270/105830 | NDN,SNRPN,UBE3A | 1 | 1 |
| 15q11.2 | Prader–Willi syndrome/Angelman syndrome (Type 2) | 176270/105830 | NDN,SNRPN,UBE3A | 1 | – |
| 15q11.2 | 15q11.2 microdeletion/microduplication1 | 6 | 1 | ||
| 15q13.3 | 15q13.3 microdeletion/microduplication3 | 612001 | Contiguous gene deletion syndrome, incl. CHRNA7 | 7 | 2 |
| 16p11.2 | 16p11.2 microdeletion/microduplication | 611913/614671 | Contiguous gene deletion syndrome | 4 | 1 |
| 16p12.1 | 16p12.1 microdeletion1 | 136570 | Contiguous gene deletion syndrome | 2 | – |
| 16p13.11 | 16p13.11 microdeletion/microduplication1 | – | Contiguous gene deletion syndrome, incl. MYH11 | 1 | 5 |
| 16p13.2 | Epilepsy with neurodevelopmental defects | 613971 | GRIN2A | 1 | – |
| 17p13.3 | 17p13.3 distal deletion | – | YWHAE | 2 | – |
| 17p12 | Hereditary neuropathy with liability to pressure palsies | 162500 | PMP22 | 2 | – |
| 17p11.2 | Smith–Magenis syndrome | 182290 | RAI1 | 1 | – |
| 17q11.2 | Neurofibromatosis I | 162200 | NF1 | 2 | – |
| 17q21.31 | Koolen-De Vries syndrome | 610443 | Contiguous gene deletion/duplication syndrome, incl. MAPT | 1 | – |
| 18p | Chromosome 18p deletion syndrome | 146390 | Contiguous gene deletion syndrome | 1 | – |
| 18p11.31 | Holoprosencephaly 4 | 142946 | TGIF | 2 | – |
| 18q22.3-q23 | Congenital aural atresia | 607842 | TSHZ1 | 1 | – |
| 22q11.2 | DiGeorge/Velocardiofacial/Chromosome 22q11.2 duplication syndrome | 188400/192430/608363 | Contiguous gene deletion syndrome, incl. TBX1 and COMT | 3 | 1 |
| 22q13 | Phelan–McDermid syndrome | 606232 | Contiguous gene deletion/duplication syndrome, incl. SHANK3 | 3 | – |
| Xp22.31 | Ichthyosis | 308100 | STS | 1 | – |
| Xp21.3-p21.2 | X-linked mental retardation | 300143 | IL1RAPL1 | 3 | – |
| Xp21.1 | Duchenne muscular dystrophy | 310200 | DMD | 3 | – |
| Xq28 | Rett syndrome | 312750 | MECP2 | – | 1 |
| Yq11.21-q11.23 | Spermatogenic failure | 415000 | USP9Y,DB9 | 1 | – |
1
Susceptibility locus.
2
One of the patients with a deletion of exons 3-8 of NSD1 did not display a clinical phenotype of Sotos syndrome, but rather a phenotype of 5q35 microduplication.
3
Duplication represents a susceptibility locus.
4
In one case, maternal UPD was diagnosed.