Small changes in the sequence of human chromosomes can have detrimental effects in the person’s health and development. The often affect multiple genes but are too small to be visible with traditional karyotyping methods. These changes seem to appear near regions of low complexity (repetitive sequence regions) with some consistency as novel mutations.
The following table shows a list of known syndromes and their genomic locations in hg19 (GRCh37) coordinates. It was compiled by A.Weise et al. in “Microdeletion and Microduplication Syndromes”, Journal of Histochemistry and Cytochemistry (2012).
| Microdeletion Syndrome | Microduplication Syndrome | OMIM | Cytoband | Chromosome | Start Position (kb) | End Position (kb) | Length (bp) |
|---|---|---|---|---|---|---|---|
| microdeletion 1p36 | – | 607872 | 1pter-p36.31 | 1 | 0 | 5309 | 5309 |
| microdeletion 1p36 (GABRD) | microduplication 1p36 (GABRD) | 613060 | 1pter-p36.3 | 1 | 0 | 10000 | 10000 |
| – | microduplication 1p34.1 | – | 1p34.1 | 1 | 45591 | 46808 | 1217 |
| microdeletion 1p32.2 | – | 613735 | 1p32.2 | 1 | 55500 | 60900 | 5400 |
| microdeletion 1p21.3 | – | – | 1p21.3 | 1 | 97320 | 99250 | 1930 |
| microdeletion 1q21.1 | microduplication 1q21.1 | 612475 | 1q21.1 | 1 | 144980 | 146343 | 1363 |
| thrombocytopenia-absent radius syndrome/TAR | – | 274000 | 1q21.1 | 1 | 144150 | 144427 | 277 |
| deletion 1q21.1 (GJA5) | duplication 1q21.1 (GJA5) | 121013 | 1q21.1 | 1 | 145040 | 145860 | 820 |
| microdeletion 1q24q25 | – | – | 1q24.3q25.1 | 1 | 170135 | 172099 | 1964 |
| microdeletion 1q24.3 | – | – | 1q24.3 | 1 | 170000 | 170600 | 600 |
| Van der Waude syndrome/VWS1 | – | 119300 | 1q32.2-q41 | 1 | 207709 | 208277 | 568 |
| microdeletion 1q41–42 | – | 612530 | 1q41-q42 | 1 | 221135 | 221775 | 640 |
| corpus callosum agenesis microdeletion | – | 612337 | 1q44 | 1 | 242576 | 242936 | 360 |
| – | microduplication 2p25.3 | – | 2p25.3 | 2 | 3250 | 3450 | 200 |
| Feingold syndrome/FS | – | 164280 | 2p24.3 | 2 | 15999 | 16005 | 6 |
| hypotonia-cystinuria syndrome/HCS | – | 606407 | 2p21 | 2 | 44384 | 44442 | 58 |
| holoprosencephaly 2/HPE2 | – | 157170 | 2p21 | 2 | 45022 | 45026 | 4 |
| – | microduplication 2p21 | – | 2p21 | 2 | 45200 | 45900 | 700 |
| NRXN1 microdeletion | NRXN1 microduplication | 600565 | 2p16.3 | 2 | 50011 | 50437 | 426 |
| microdeletion 2p15–16.1 | – | 612513 | 2p15–16.1 | 2 | 57537 | 61534 | 3997 |
| microdeletion 2p14-p15 | – | 612513 | 2p14–15 | 2 | 63756 | 65377 | 1621 |
| microdeletion 2p11.2-p12 | – | 613564 | 2p11.2-p12 | 2 | 77597 | 87091 | 9494 |
| microdeletion 2q11.2 (LMAN2L, ARID5A) | – | – | 2q11.2 | 2 | 96090 | 97040 | 950 |
| mesomelic dysplasia/MMD | – | 605274 | 2q11.2 | 2 | 99530 | 100125 | 595 |
| microdeletion 2q11.2q13 (NCK2, FHL2) | microduplication 2q11.2q13 (NCK2, FHL2) | 602633/604930 | 2q11.2q13 | 2 | 100060 | 107810 | 7750 |
| nephronophthisis 1/NPHP1 | microduplication 2q11.2q13 | 256100 | 2q13 | 2 | 110293 | 110320 | 27 |
| microdeletion 2q13 | microduplication 2q13 | – | 2q13 | 2 | 111050 | 112950 | 1900 |
| autism-dyslexia microdeletion 2q14.3 | microduplication 2q14.3 (own case) | – | 2q14.3 | 2 | 124500 | 125500 | 1000 |
| Mowat–Wilson syndrome/MWS | – | 235730 | 2q22.3 | 2 | 144900 | 144994 | 94 |
| microdeletion 2q23.1 | – | 156200 | 2q23.1 | 2 | 148964 | 149150 | 186 |
| microdeletion 2q23.3q24.1 | – | 156200 | 2q23.3-q24.1 | 2 | 153150 | 156930 | 3780 |
| microdeletion 2q24.3 | neonatal epilepsy microduplication | 607208/604403 | 2q24.2-q24.3 | 2 | 165133 | 166562 | 1429 |
| synpolydactyly 1/SPD1 | microduplication 2q31.1 | 613681 | 2q31.1 | 2 | 176659 | 177679 | 1020 |
| microdeletion 2q31.2-q32.3 | – | 612345 | 2q31.2-q32.2 | 2 | 177640 | 191380 | 13740 |
| microdeletion 2q33.1 | – | 612313 | 2q33.1 | 2 | 196538 | 204915 | 8377 |
| brachydactyly-mental retardation syndrome/BDMR | – | 600430 | 2q37 | 2 | 239620 | 242951 | 3331 |
| distal 3p deletion | – | 613792 | 3p25-p26 | 3 | 0 | 6995 | 6995 |
| Von Hippel Lindau disease/VHL | – | 193300 | 3p25-p26 | 3 | 10158 | 10169 | 11 |
| microdeletion 3p21.31 | – | – | 3p21.31 | 3 | 49120 | 52220 | 3100 |
| microdeletion 3p14.1p13 | – | 605515 | 3p14.1-p13 | 3 | 71164 | 71959 | 795 |
| microdeletion 3p11.1p12.1 | – | – | 3p11.2-p12.1 | 3 | 87069 | 87408 | 339 |
| proximal 3q microdeletion syndrome | – | – | 3q13.11-q13.12 | 3 | 106400 | 108900 | 2500 |
| microdeletion 3q13.31 | – | – | 3q13.31 | 3 | 115335 | 115916 | 581 |
| blepharophimosis, ptosis, and epicanthus inversus syndrome/BPES | – | 110100 | 3q23 | 3 | 140146 | 140148 | 2 |
| Dandy–Walker syndrome/DWS | – | 220200 | 3q24 | 3 | 148610 | 148617 | 7 |
| microdeletion 3q27.3q29 | – | – | 3q27.3-q29 | 3 | 188870 | 198080 | 9210 |
| microdeletion 3q29 | microduplication 3q29 | 609425/611936 | 3q29 | 3 | 197126 | 198982 | 1856 |
| Wolf–Hirschhorn syndrome/WHS | microduplication 4p16.3 | 194190 | 4pter-p16.3 | 4 | 0 | 2043 | 2043 |
| – | microduplication 4p16.1 | – | 4p16.1 | 4 | 9450 | 10450 | 1000 |
| microdeletion 4p15.3 | – | – | 4p15.3 | 4 | 16583 | 20747 | 4164 |
| microdeletion 4q21.21q21.22 | – | 613509 | 4q21.21q21.22 | 4 | 81950 | 83350 | 1400 |
| microdeletion 4q21 | – | 613509 | 4q21 | 4 | 82228 | 83601 | 1373 |
| microdeletion 4q21.2q21.3 | – | – | 4q21.2-q21.3 | 4 | 89148 | 89218 | 70 |
| – | Parkinson disease/PARK1 | 163890/168601 | 4q22.1 | 4 | 90747 | 91018 | 271 |
| Rieger type 1/RIEG1 | – | 180500 | 4q25 | 4 | 111758 | 111779 | 21 |
| – | 4q32.1-q32.2 Triple/Duplication syndrome | 613603 | 4q32.1q32.2 | 4 | 157356 | 161615 | 4259 |
| Cri–du-Chat syndrome/CdCS | – | 123450 | 5p15.2-p15.33 | 5 | 0 | 11777 | 11777 |
| Cornelia de Lange syndrome/CDLS | NIPBL microduplication | 613174 | 5p13.2 | 5 | 36997 | 37033 | 36 |
| spinal muscular atrophy/SMA | – | 253300 | 5q13.2 | 5 | 70278 | 70286 | 8 |
| microdeletion 5q14.3 | – | 600662 | 5q14.3 | 5 | 86142 | 86413 | 271 |
| microdeletion 5q14.3-q15 | – | 612881 | 5q14.3-q15 | 5 | 88400 | 90090 | 1690 |
| familial adenomatous polyposis/FAP | – | 175100 | 5q22.2 | 5 | 112129 | 112249 | 120 |
| – | adult-onset autosomal dominant leukodystrophy/ADLD | 169500 | 5q23.2 | 5 | 126046 | 126233 | 187 |
| PITX1 microdeletion | – | 602149 | 5q31.1 | 5 | 134222 | 134463 | 241 |
| microdeletion 5q31.3 | – | – | 5q31.3 | 5 | 139117 | 141682 | 2565 |
| – | Pseudo trisomy 13 syndrome | 264480 | 5q35.1 | 5 | 170222 | 171584 | 1362 |
| microdeletion 5q35.1 | – | – | 5q35.1 | 5 | 172592 | 172595 | 3 |
| parietal foramina/PFM | – | 168500 | 5q35.2 | 5 | 174084 | 174091 | 7 |
| Sotos syndrome | microduplication 5q35 | 117550 | 5q35.2-q35.3 | 5 | 175063 | 177389 | 2326 |
| microdeletion 6p | – | 612582 | 6p25 | 6 | 0 | – | |
| microdeletion 6p22.3 | – | – | 6p22.3 | 6 | 20850 | 21250 | 400 |
| adrenal hyperplasia/AH | – | 201910 | 6p21.32 | 6 | 32114 | 32117 | 3 |
| microdeletion 6p21.31 | – | – | 6p21.31 | 6 | 33273 | 34086 | 813 |
| microdeletion 6q13–14 | – | 613544 | 6q13–14 | 6 | 72650 | 76310 | 3660 |
| Prader–Willi like | – | 176270 | 6q16.2 | 6 | 100943 | 101018 | 75 |
| – | transient neonatal diabetes mellitus 1/TNDM1 | 601410 | 6q24.2 | 6 | 144303 | 144427 | 124 |
| microdeletion 6q25.2-q25.3 | – | 612863 | 6q25.2-q25.3 | 6 | 155500 | 158853 | 3353 |
| PARK2 microdeletion | PARK2 microduplication | 602544 | 6q26 | 6 | 161688 | 162784 | 1096 |
| microdeletion 6q27 anosmia | Chondroma/CHDM | 215400 | 6q27 | 6 | 165554 | 170762 | 5208 |
| Saethre–Chotzen syndrome/SCS | – | 101400 | 7p21.1 | 7 | 19121 | – | |
| Greig cephalopolysyndactyly/GCPS | – | 175700 | 7p14.1 | 7 | 41967 | 42243 | 276 |
| Williams–Beuren syndrome/WBS | microduplication 7q11.23 | 609757/194050 | 7q11.23 | 7 | 71971 | 74255 | 2284 |
| WBS-distal deletion (RHBDD2, HIP1) | – | 613729 | 7q11.23 | 7 | 74800 | 76500 | 1700 |
| split hand/foot malformation 1/SHFM1 | – | 183600/220600 | 7q21.3 | 7 | 95370 | 96619 | 1249 |
| microdeletion 7q22.1-q22.3 | – | – | 7q22.1-q22.3 | 7 | 101040 | 104560 | 3520 |
| autism/dyslexia microdeletion 7q31.1 | – | – | 7q31.1 | 7 | 110654 | 111266 | 612 |
| speech-language-disorder 1/SPCH1 | – | 602081 | 7q31 | 7 | 114085 | 114090 | 5 |
| holoprosencephaly 3/HPE3 | – | 142945 | 7q36.3 | 7 | 155288 | 155298 | 10 |
| – | triphalangeal thumb polysyndactyly syndrome/TPTS | 174500 | 7q36.3 | 7 | 155836 | 156425 | 589 |
| Currarino syndrome/CS | – | 176450 | 7q36.3 | 7 | 156490 | 156496 | 6 |
| microdeletion 8p23.1 | microduplication 8p23.1 | 179613 | 8p23.1 | 8 | 8156 | 11803 | 3647 |
| microdeletion 8p21.2 | – | – | 8p21.2 | 8 | 20750 | 24390 | 3640 |
| microdeletion 8p12p21 | – | – | 8p12p21 | 8 | 24500 | 31300 | 6800 |
| – | microduplication 8q11.23 | 610928 | 8q11.23 | 8 | 53450 | 54050 | 600 |
| CHARGE syndrome | microduplication 8q12 | 214800 | 8q12.2 | 8 | 61754 | 61942 | 188 |
| microdeletion 8q12.3q13.2 | – | – | 8q12.3-q13.2 | 8 | 65450 | 69020 | 3570 |
| mesomelia-synostoses syndrome/MSS | – | 600383 | 8q13 | 8 | 70541 | 70908 | 367 |
| microdeletion 8q21.11 | – | 614230 | 8q21.11 | 8 | 77389 | 77929 | 540 |
| nablus mask-like facial syndrome/NMLFS | – | 608156 | 8q21.3-q22.1 | 8 | 93210 | 97940 | 4730 |
| microdeletion 8q22.2q22.3 | – | – | 8q22.2-q22.3 | 8 | 100690 | 104560 | 3870 |
| Langer–Giedion syndrome/LGS | – | 150230 | 8q24.11 | 8 | 118881 | 119193 | 312 |
| sex reversal syndrome 4/SRXY4 | – | 154230 | 9p24.3 | 9 | 0 | 1048 | 1048 |
| monosomy 9p syndrome | – | 158170 | 9pter-p22.3 | 9 | 0 | 16168 | 16168 |
| – | microduplication 9q21.11 | 613558 | 9q21.11 | 9 | 71051 | 71197 | 146 |
| microdeletion 9q22.3 | PTCH1 microduplication | 601309 | 9q22.3 | 9 | 94420 | 99100 | 4680 |
| holoprosencephaly 7/HPE7 | – | 610828 | 9q22.32 | 9 | 97284 | 97319 | 35 |
| nail-patella syndrome/NPS | – | 161200 | 9q33.3 | 9 | 128417 | 128499 | 82 |
| early infantile epileptic encephalopathy 4/EIEE4 | – | 612164 | 9q34.11 | 9 | 129414 | 129495 | 81 |
| microdeletion 9q34 (EHMT1) | microduplication 9q34 (EHMT1) | 607001 | 9q34.3 | 9 | 136950 | 140200 | 3250 |
| subtelomere deletion 9q | – | 610253 | 9q34.3 | 9 | 139473 | 140273 | 800 |
| hypoparathyroidism, sensorineural deafness, and renal disease/HDRS | – | 146255 | 10p15 | 10 | 8137 | 8157 | 20 |
| Di George syndrome 2/DGS2 | – | 601362 | 10p12.31 | 10 | 21144 | 21170 | 26 |
| microdeletion 10q22-q23 (NRG3, GRID1) | – | – | 10q22-q23 | 10 | 81655 | 88984 | 7329 |
| juvenile polyposis syndrome/JPS | – | 612242 | 10q23.2-q23.3 | 10 | 88675 | 89613 | 938 |
| – | Split-Hand/Foot Malformation 3/SHFM3 | 246560 | 10q24.32 | 10 | 102977 | 103445 | 468 |
| microdeletion 10q25q26 | – | 609625 | 10q25q26 | 10 | 117098 | qter | 18319 |
| Beckwith–Wiedemann syndrome/BWS—Silver Russell syndrome/SRS microdeletion | Beckwith–Wiedemann syndrome/BWS—Silver Russell syndrome/SRS microduplication | 130650 | 11p15.5 | 11 | 2861 | 2864 | 3 |
| WAGR syndrome | microduplication 11p13 | 194072/612469 | 11p13 | 11 | 31767 | 32467 | 700 |
| Potocki–Shaffer syndrome/PSS | – | 601224 | 11p11.2 | 11 | 43905 | 46080 | 2175 |
| – | spinocerebellar ataxia type 20/SCA20 | 608687 | 11q12.2q12.3 | 11 | 61210 | 61503 | 293 |
| microdeletion 11q14.1 | – | – | 11q14.1-q14.2 | 11 | 86334 | 86344 | 10 |
| Jacobsen syndrome/JBS | – | 147791/188025 | 11q23.3-qter | 11 | 115400 | 134452 | 19052 |
| – | microduplication 12p13.31 | – | 12p13.31 | 12 | 8050 | 8250 | 200 |
| microdeletion 12q14 | – | – | 12q14 | 12 | 63356 | 66932 | 3576 |
| nasal speech-hypothyroidism microdeletion/NSH | – | – | 12q15-q21.1 | 12 | 68802 | 701392 | 632590 |
| Noonan syndrome 1/NS1 | – | 163950 | 12q24.1 | 12 | 111341 | 111432 | 91 |
| microdeletion 13q12 (CRYL1) | microduplication 13q12 (CRYL1) | – | 13q12.11 | 13 | 19710 | 19910 | 200 |
| spastic ataxia Charlevoix–Saguenay/SACS | – | 270550 | 13q12.12 | 13 | 22336 | 23807 | 1471 |
| microdeletion 13q12.3-q13.1 | – | 600185 | 13q12.3-q13.1 | 13 | 31137 | 31871 | 734 |
| retinoblastoma/RB1 | – | 613884 | 13q14.2 | 13 | 47776 | 47954 | 178 |
| Hirschsprung disease 2/HSCR2 | – | 600155 | 13q22 | 13 | 77369 | 77391 | 22 |
| holoprosencephaly5/HPE5 | – | 609637 | 13q32.3 | 13 | 99432 | 99437 | 5 |
| microdeletion 14q11.2 | – | 613457 | 14q11.2 | 14 | 20920 | 20947 | 27 |
| congenital Rett variant/CRV | microduplication 14q12 | 613454 | 14q12 | 14 | 28300 | 30000 | 1700 |
| microdeletion 14q22-q23 | – | 607932 | 14q22-q23 | 14 | 53486 | 60261 | 6775 |
| autism spherocytosis microdeletion/ASC | – | – | 14q23.2-q23.3 | 14 | 63924 | 64471 | 547 |
| microdeletion 14q32.2 | – | – | 14q32.2 | 14 | 99463 | 100574 | 1111 |
| microdeletion 15q11.2 (NIPA1) | microduplication 15q11.2 (NIPA1) | 608145 | 15q11.2 | 15 | 20350 | 20640 | 290 |
| Angelman syndrome Typ1/AS1 | microduplication 15 | 105830 | 15q11.2-q13.1 | 15 | 20405 | 26231 | 5826 |
| Angelman syndrome Typ2/AS2 | microduplication 15 | 105830 | 15q11.2-q13.1 | 15 | 21309 | 26231 | 4922 |
| Prader–Willi syndrome Typ 1/ PWS1 | microduplication 15 | 176270 | 15q11.2-q13.1 | 15 | 20405 | 26231 | 5826 |
| Prader–Willi syndrome Typ 2/ PWS2 | microduplication 15 | 176270 | 15q11.2-q13.1 | 15 | 21309 | 26231 | 4922 |
| microdeletion 15q13.3 (CHRNA7) | microduplication 15q13.3 (CHRNA7) | 612001 | 15q13.3 | 15 | 28525 | 30489 | 1964 |
| microdeletion 15q14 | – | – | 15q14 | 15 | 33471 | 35072 | 1601 |
| deafness and male infertility syndrome/DMIS | – | 611102 | 15q15.3 | 15 | 41613 | 41747 | 134 |
| microdeletion 15q21 | – | – | 15q21 | 15 | 48382 | 48565 | 183 |
| microdeletion 15q24 (BBS4,NPTN, NE01) | – | 601907 | 15q24 | 15 | 70700 | 72200 | 1500 |
| microdeletion 15q24 | microduplication 15q24 | 613406 | 15q24 | 15 | 72158 | 73949 | 1791 |
| orofacial clefting/OC | – | 614294 | 15q24.3-q25.2 | 15 | 76080 | 80338 | 4258 |
| microdeletion 15q25 | – | 614294 | 15q25 | 15 | 82900 | 83600 | 700 |
| microdeletion 15q26.1 | – | – | 15q26.1 | 15 | 91100 | 91600 | 500 |
| Fryns syndrome/FNS | – | 229850 | 15q26.2 | 15 | 92238 | 96520 | 4282 |
| microdeletion 15q26.2-qter | – | – | 15q26.2-qter | 15 | 95600 | 100339 | 4739 |
| ATR-16-syndrome | – | 141750 | 16p13.3 | 16 | 0 | 774 | 774 |
| tuberous sclerosis microdeletion syndrome/PKDTS | tuberous sclerosis microduplication | 600273 | 16p13.3 | 16 | 2038 | 2079 | 41 |
| Rubinstein–Taybi syndrome 1/RSTS1 | Rubinstein–Taybi-microduplication | 610543/613458 | 16p13.3 | 16 | 3762 | 3801 | 39 |
| microdeletion 16p13.1 (MYH11) | microduplication 16p13.1 (MYH11) | 132900 | 16p13.1 | 16 | 14789 | 16281 | 1492 |
| microdeletion 16p11.2-p12.2 | microduplication 16p11.2-p12.2 | 613604 | 16p11.2-p12.2 | 16 | 21521 | 28950 | 7429 |
| microdeletion 16p12.1 (EEF2K,CDR2) | microduplication 16p12.2 (EEF2K,CDR2) | 117340/606968 | 16p12.1 | 16 | 21850 | 22370 | 520 |
| 16q11.2 distal microdeletion (SH2B1) | 16q11.2 distal microduplication (SH2B1) | – | 16q11.2 | 16 | 28680 | 29020 | 340 |
| microdeletion 16p11.2 (TBX6) | microduplication 16p11.2 (TBX6) | 602427/611913 | 16p11.2 | 16 | 29551 | 30059 | 508 |
| microdeletion 16q11.2-q12.1 | – | – | 16q11.2-q12.1 | 16 | 45401 | 45579 | 178 |
| microdeletion 16q21-q22 | – | – | 16q21-q22 | 16 | 65621 | 65692 | 71 |
| microdeletion 16q12.1-q12.2 | – | – | 16q12.1-q12.2 | 16 | 48018 | 52726 | 4708 |
| microdeletion 16q24.1 | – | 601089 | 16q24.1 | 16 | 82908 | 85153 | 2245 |
| FANCA deletion | – | 227650 | 16q24.3 | 16 | 88392 | 88411 | 19 |
| Miller–Dieker syndrome/MDLS | Miller–Dieker microduplication | 247200/613215 | 17p13.3 | 17 | 0 | 2492 | 2492 |
| microdeletion 17p13.3 (YWHAE) | microduplication 17p13.3 (YWHAE) | 247200/613215 | 17p13.3 | 17 | 2–310 | 2870 | 2870 |
| microdeletion 17p13.1 | – | 613776 | 17p13.1 | 17 | 7429 | 7937 | 508 |
| hereditary liability to pressure palsies/HNPP | Charcot–Marie–Tooth 1A/CMT1A | 162500/118220 | 17p12 | 17 | 13855 | 15375 | 1520 |
| Smith–Magenis syndrome/SMS | Potocki–Lupski syndrome/PTLS | 610883 | 17p11.2 | 17 | 16527 | 20423 | 3896 |
| neurofibromatosis 1/NF1 | microduplication NF1 | 613675 | 17q11 | 17 | 26102 | 27243 | 1141 |
| microdeletion 17q11.2-q12 | – | – | 17q11.2-q12 | 17 | 26280 | 31030 | 4750 |
| microdeletion 17q12a | – | – | 17q12 | 17 | 31977 | 33150 | 1173 |
| renal cysts and diabetes syndrome/RCAD | microduplication 17q12b | 137920 | 17q12 | 17 | 31830 | 33350 | 1520 |
| Van Buchem disease/VBCH | – | 239100 | 17q12-q21 | 17 | 39187 | 39192 | 5 |
| microdeletion 17q21.3 (MAPT) | microduplication 17q21.31 (MAPT) | 610443/613533 | 17q21.3 | 17 | 40988 | 41566 | 578 |
| microdeletion 17q21.31-q21.32 | – | – | 17q21.31-q21.32 | 17 | 41769 | 43113 | 1344 |
| microdeletion 17q22-q23.2 | – | – | 17q22–23.2 | 17 | 48300 | 54200 | 5900 |
| – | microduplication 17q23.1–23.2 | 613355/613618 | 17q23.1–23.2 | 17 | 55457 | 57693 | 2236 |
| microdeletion 17q24.2-q24.3 | – | – | 17q24.2-q24.3 | 17 | 61730 | 65690 | 3960 |
| carney complex syndrome 1/CNC1 | – | 160980 | 17q24.2-q24.3 | 17 | 63260 | 65594 | 2334 |
| – | microduplication 17q24.3 | 278850 | 17q24.3 | 17 | 65642 | 66847 | 1205 |
| holoprosencephaly 4/HPE4 | – | 146390 | 18p11.31 | 18 | 3445 | 3448 | 3 |
| proximal 18q microdeletion | – | 601808 | 18q12.3-q21.1 | 18 | 37500 | 42500 | 5000 |
| Pitt–Hopkins syndrome/PTHS | – | 610954 | 18q21.1 | 18 | 51083 | 51282 | 199 |
| microdeletion 18q22.3-q23 | – | 607842 | 18q22.3-q23 | 18 | 70474 | 73111 | 2637 |
| – | Sotos-like microduplication 19p13.2 | – | 19p13.2 | 19 | 9107 | 11094 | 1987 |
| microdeletion 19p13.13 | microduplication 19p13.13 | 613638 | 19p13.13 | 19 | 12793 | 13104 | 311 |
| microdeletion 19p13.12 | – | – | 19p13.12 | 19 | 14119 | 14439 | 320 |
| microdeletion 19p13.11 | – | – | 19p13.11 | 19 | 16485 | 17554 | 1069 |
| microdeletion 19q13.11 | – | 613026 | 19q13.11 | 19 | 37300 | 40200 | 2900 |
| Diamond–Blackfan anemia/DBA | – | 105650 | 19q13.2 | 19 | 47056 | 47067 | 11 |
| microdeletion 20p12.3 | – | 112261 | 20p12.3 | 20 | 6907 | 7012 | 105 |
| Alagille syndrome 1/ALGS1 | – | 118450 | 20p12 | 20 | 10478 | 10669 | 191 |
| microdeletion 20q13.13-q13.2 | – | – | 20q13.13-q13.2 | 20 | 49760 | 50840 | 1080 |
| Albright hereditary osteodystrophy/AHO | – | 103580 | 20q13.32 | 20 | 56900 | 56920 | 20 |
| microdeletion 20q13.33 | – | – | 20q13.33 | 20 | 61246 | 62376 | 1130 |
| microdeletion 21q21.1 | – | – | 21q21.1 | 21 | 19950 | 20250 | 300 |
| – | microduplication 21q21.3 | – | 21q21.3 | 21 | 25960 | 26470 | 510 |
| platelet disorder/PD | – | 601399 | 21q22.12 | 21 | 34743 | 35343 | 600 |
| – | Down syndrome/DS | 190685 | 21q22.13 | 21 | 37300 | 38502 | 1202 |
| – | Cat-Eye syndrome/CES | 115470 | 22p11.1-q11.21 | 22 | 0 | 16977 | 16977 |
| Di George syndrome/CATCH22/DGS | microduplication 22q11.2 | 608363/145410 | 22q11.21-q11.23 | 22 | 16932 | 20672 | 3740 |
| distal microdeletion 22q11.2 (BCR, MAPK1) | distal microduplication 22q11.2 (BCR, MAPK1) | 611867 | 22q11.2 | 22 | 20446 | 22026 | 1580 |
| neurofibromatosis 2 microdeletion syndrome | – | 101000 | 22q12.2 | 22 | 28330 | 28425 | 95 |
| Phelan–McDermid syndrome | microduplication 22q13 (SHANK3) | 606232 | 22q13 | 22 | 49449 | 49691 | 242 |
| Leri–Weill dyschondrosteosis/LWD | – | 127300 | Xp22.33 | X | 0 | 724 | 724 |
| X-Linked autism-2/AUTSX2 | – | 300495 | Xp22.32-p22.31 | X | 5818 | 6157 | 339 |
| Steroid sulphatase deficiency/STS | – | 308100 | Xp22.31 | X | 6452 | 8128 | 1676 |
| Kallmann syndrome 1/KAL1 | – | 308700 | Xp22.31 | X | 8457 | 8660 | 203 |
| MIDAS syndrome | – | 309801 | Xp22.2 | X | 11039 | 11659 | 620 |
| Nance–Horan syndrome/NHS | – | 302350 | Xp22.13 | X | 16853 | 17768 | 915 |
| microdeletion Xp22.11 | – | 300830 | Xp22.11 | X | 22928 | 23309 | 381 |
| X-linked congenital adrenal hypoplasia/AHC | DAX1 microduplication | 300679 | Xp21.2 | X | 30233 | 30237 | 4 |
| complex glycerol kinase/CGK | – | 300679 | Xp21.2 | X | 30233 | 30659 | 426 |
| muscular dystrophy Duchenne/DMD | – | 310200 | Xp21.2 | X | 32445 | 33268 | 823 |
| Xp11.3 deletion syndrome | – | 300578 | Xp11.3 | X | 46193 | 46627 | 434 |
| Goltz syndrome/GS | – | 305600 | Xp11.23 | X | 48252 | 48264 | 12 |
| – | 17-beta-hydroxysteroid dehydrogenase X/HSD | 300801 | Xp11.22 | X | 53467 | 53730 | 263 |
| – | microduplication Xq12q13.1 | 300127 | Xq12-q13.1 | X | 67435 | 68633 | 1198 |
| X inactivation specific transcript/XIST | – | 314670 | Xq13.2 | X | 72863 | 73063 | 200 |
| Bruton agammaglobulinemia/XLA | – | 300755 | Xq22.1 | X | 100490 | 100497 | 7 |
| microdeletion Xq22.2 | Pelizaeus–Merzbacher microduplication/PMD | 312080 | Xq22.2 | X | 102609 | 103098 | 489 |
| microdeletion Xq22.3q23 | – | 300194/303631 | Xq22.3-q23 | X | 107214 | 110239 | 3025 |
| lymphoproliferative syndrome 1/XLP1 | – | 308240 | Xq25 | X | 123308 | 123335 | 27 |
| – | X-linked hypopituitarism/SRXX3 | 300833 | Xq27.1 | X | 139413 | 139415 | 2 |
| fragile site mental retardation 1/FMR1 | – | 309550 | Xq27.3 | X | 146801 | 146840 | 39 |
| microdeletion Xq28 | – | – | Xq28 | X | 147043 | 147543 | 500 |
| Rett syndrome/RS | MECP2 microduplication | 300475/300815/ 300845 | Xq28 | X | 152535 | 153044 | 509 |
| sex-determining region Y/SRY | – | 480000 | Yp11.31 | Y | 2715 | 2716 | 1 |
| AZFa microdeletion | – | 415000 | Yq11.21 | Y | 12934 | 13664 | 730 |
| AZFb microdeletion | – | 415000 | Yq11.221- q11.223 | Y | 18698 | 24475 | 5777 |
| AZFb+c microdeletion | – | 415000 | Yq11.221-q11.23 | Y | 18474 | 26203 | 7729 |
| AZFc microdeletion | – | 415000 | Yq11.223-q11.23 | Y | 23387 | 26203 | 2816 |
Feature Image by Darko Stojanovic from Pixabay
