| Disorder (Syndrome) |
OMIM# |
Chr |
Band |
Genes |
Detection Rate* |
Selected References (PMID#) |
| 22q11.2 Duplication
| 608363 | 22 |
q11.2 |
TBX1 |
~99% |
14526392
15800846 |
| 22q13.3 Deletion |
606232 |
22 |
q13.3 |
SHANK3 |
~99% |
12073014 12960216 11391650 |
| 7q11.23 Duplication |
609757 |
7 |
q11.23 |
Multiple |
~99% |
16236740 16391556 |
| Adrenal hypoplasia congenital |
300200 |
X |
p21.2 |
NR0B1 |
~18% in AHC; ~ 99% in contiguous gene |
7609262 9709929 |
| Alagille |
118450 |
20 |
p12.2 |
JAG1 |
5~7% |
11180599 11745040 |
| Albright hereditary osteodystrophy-like/ Brachydactyl-MR |
600430 |
2 |
q37.3 |
Multiple |
Undetermined |
15173228 7573148 15521982 |
| Angelman |
105830 |
15 |
q11.2 |
UBE3A |
~70% |
3688021 8098583 |
| Aniridia II |
106210 |
11 |
p13 |
PAX6 |
20~35% |
12386836 11479730 9482572 |
| Autistic Features |
209850 |
15 |
q11.2~q13 |
Multiple |
1~3% |
11803514 15197683 |
| Basal cell nevus |
109400 |
9 |
q22.32 |
PTCH |
<5% |
8681379 8755929 |
| Beckwith-Wiedemann |
130650 |
11 |
p15.5 |
IGF2 |
1~2% |
9781904 9350814 |
| Bruton agammaglobulinemia tyrosine |
300300 |
X |
q22.1 |
BTK |
Very low except contiguous gene |
11338284 |
| Cat-eye |
115470 |
22 |
q11.1 |
Multiple |
>90% |
15756300 10198173 11381032 |
| Cleidocranial dysplasia |
119600 |
6 |
p21.1 |
RUNX2 |
5~10% |
9182765 8533817 |
| Congenital diaphragmatic hernia |
142340 |
15 |
q26.1~26.2 |
NR2F2, CHD2 |
1~2% |
15750894 11288119 |
| Corneila de Lange |
122470 |
5 |
p13.2 |
NIPBL |
Rare |
16075459 15318302 15146186 |
| Cri-du-Chat |
123450 |
5 |
p15.2~p13.3 |
Multiple |
~99% |
9267803 11238681 15635506 |
| Dandy-Walker malformation |
220200 |
3 |
q24 |
ZIC1, ZIC4 |
Rare |
15338008 |
| DiGeorge |
188400 |
22 |
q11.2 |
TBX1 |
>95% |
14719134 10699172 14585638 |
| DiGeorge 2 |
601362 |
10 |
p14 |
Multiple |
<1% |
10766989 10361989 |
| Dosage sensitive sex reversal |
300018 |
X |
p21.2 |
NR0B1 |
>95% |
7951319 15216557 |
| Down Syndrome |
190685 |
21 |
q22 |
Multiple |
Rare |
2143053 11280955 |
| Feingold |
164280 |
2 |
p24.3 |
MYCN |
Very low |
15821734 |
| Glycerol kinase deficiency |
300474 |
X |
p21.2 |
GK |
Low except in contiguous gene |
11032329 11479736 |
| Greig cephalopolysyndactyly |
175700 |
7 |
p14.1 |
GLI3 |
~30% |
14608643 |
| Holoprosencephaly 1 |
236100 |
21 |
q22.3 |
TMEM1 |
Undetermined |
7485157 9196060 |
| Holoprosencephaly 3 |
142945 |
7 |
q36.3 |
SHH |
1~2% |
16323008 10556296 |
| Holoprosencephaly 6 |
605934 |
2 |
q37.1~q37.3 |
HPE6 |
Undetermined |
11343300 |
| Hypoparathyroidism sensorineural deafness, renal disease |
146255 |
10 |
p14 |
GATA3 |
~40% |
11389161 10935639 |
| Jacobsen |
147791 |
11 |
q25 |
Multiple |
~65% |
14597985 15266616 |
| Kallmann 1 |
308700 |
X |
p22.31 |
KAL1 |
10~12% |
3007328 8473391 15001591 |
| Langer- Giedion |
150230 |
8 |
q23.3~q24.11 |
TRPS1, EXT1 |
~75% |
7550340 7711731 9150732 |
| Leri-Weill dyschondrosteosis |
127300 |
X |
pter~p22.32 |
SHOX, SHOXY |
60-80% |
11739418 16103983 |
| Lissencephaly |
607432 |
17 |
p13.3 |
LIS1 |
>13% |
11261426 |
| Microphthalmia with linear skin defects |
309801 |
X |
p22.2 |
HCCS |
Undetermined |
11424926 12444108 9747372 |
| Miller Dieker/ Lissencephaly 1 |
247200 |
17 |
p13.3 |
LIS1 |
85~90% |
12621583 1671808 9747372 |
| Monosomy 1p36 |
607872 |
1 |
p36 |
Multiple |
~99% |
12687501 12974736 12915473 |
| Monosomy 9p |
158170 |
9 |
p22.3~p23 |
Multiple |
Undetermined |
16419130 16570072 |
| Neurofibromatosis 1/ MR |
162200 |
17 |
q11.2 |
NF1 |
2~20% |
9143927 12696059 9654211 |
| Opitz |
300000 |
X |
p22.2 |
MID1 |
Undetermined |
17221865 |
| Pallister-Killian |
601803 |
12 |
p arm |
Multiple |
>95% |
3605213 2002482 |
| Potocki-Shaffer |
601224 |
11 |
p11.2 |
EXT2, ALX4 |
~99% |
8882796 15852040 |
| Prader-Willi |
176270 |
15 |
q11.2~q12 |
SNRPN |
~70% |
1363801 2309780 |
| Retinoblastoma/ MR |
180200 |
13 |
q14.2 |
RB1 |
80% |
2779982 12541220 |
| Rett Syndrome/ MECP2 male duplication |
312750 |
X |
q28 |
MECP2 |
5% ? |
15841480 16080119 17172942 |
| Rieger 1 |
180500 |
4 |
q25 |
PITX2 |
Undetermined |
11092457 9480756 14985297 |
| Rubenstein-Taybi |
180849 |
16 |
p13.3 |
CREBBP |
~10% |
10699051 9677064 |
| Saethre-Chotzen |
101400 |
7 |
p21.1 |
TWIST1 |
10~30% |
8988166 12116251 |
| Sex reversal, autosomal dominant 2 |
154230 |
9 |
p24.3 |
Multiple |
Undetermined |
9718346 9718347 9718353 |
| Smith-Magenis |
182290 |
17 |
p11.2 |
RAI1 |
90~99% |
1746552 10036180 12652298 |
| Sotos |
117550 |
5 |
q35 |
NSD1 |
10~40% depending upon ethnicity |
14517949 15805156 14571271 |
| Speech delay with FOXP2 deletion |
602081 |
7 |
q31.1 |
FOXP2 |
Very low |
9462748 15326624 16470794 |
| Split hand/foot malformation 3 |
600095 |
10 |
q24.32 |
FBXW4 |
20~30% |
12913067 16235095 16761290 |
| Split hand/foot malformation 4 |
605289 |
3 |
q28 |
TP73L |
Undetermined |
10839977 11462173 |
| Split hand/foot malformation 5 |
606708 |
2 |
q31.1 |
DLX1, DLX2 |
Undetermined |
15662696 7717414 12668597 |
| Trichorhinophalangeal 1 |
190350 |
8 |
q23.3 |
TRPS1 |
<20% |
11112658 10615131 |
| Velocardiofacial |
192430 |
22 |
q11.2 |
TBX1 |
>95% |
14719134 10699172 14585638 |
| WAGR |
194072 |
11 |
p13 |
WT1, PAX6 |
~66% |
12386836 |
| Williams-Beuren |
194050 |
7 |
q11.23 |
ELN, LIMK1 |
>95% |
7611295 7726172 |
| Wilms Tumor |
194070 |
11 |
p13 |
WT1 |
20~30% |
15150775 |
| Wolf-Hirschhorn |
194190 |
4 |
p16.3 |
Multiple |
>95% |
9215768
11480768
15342700
|
| All 41 unique subtelomeric regions |
0.5-7% |
10869233
16199540
11951177
|
| All 43 unique pericentromeric regions |
Varies with marker chromosome |
|
| Aneuploidy for 24 chromosomes |
>99% |
|
| * Rates of detection are based on those described in the selected references listed by PubMed ID number. |
