Table 2.
Established genomic disorders detected
| OMIM | Syndrome | n | del (x1) | dup (x3) | trp (x4) |
|---|---|---|---|---|---|
| 607872 |
1p36 |
2 |
2 |
- |
- |
| 612474/612475 |
1q21.1 $ |
42 |
20 |
22 |
- |
| 600430 |
2q37 |
4 |
4 |
- |
- |
| 609425/611936 |
3q29 |
8 |
2 |
6 |
- |
| 194190 |
Wolf-Hirschhorn |
2 |
2 |
- |
- |
| 123450 |
Cri du Chat |
3 |
3 |
- |
- |
| 175100 |
Familial Adenomatous Polyposis 1 |
1 |
1 |
- |
- |
| 117550 |
Sotos |
2 |
2 |
- |
- |
| 194050/609757 |
Williams-Beuren |
14 |
6 |
7 |
1 |
| 183600 |
Split-Hand/Foot Malformation 1 |
2 |
2 |
- |
- |
| 610253 |
Kleefstra |
4 |
4 |
- |
- |
| 194072 |
WAGR |
1 |
1 |
- |
- |
| 176270/105830 |
Prader-Willi/Angelman |
19 |
10 |
7 |
2 |
| 612001 |
15q13.3 $ |
26 |
26 |
- |
- |
| 613406/613406 |
15q24 |
2 |
2 |
- |
- |
| * |
15q26 |
1 |
1 |
- |
- |
| 141750 |
ATR-16 |
2 |
2 |
- |
- |
| ** |
16p13.11 $ |
45 |
13 |
32 |
- |
| 136570 |
16p12.1 $ |
24 |
24 |
- |
- |
| 613444 |
Distal 16p11.2 $ |
8 |
8 |
- |
- |
| 611913 |
Proximal 16p11.2 $ |
60 |
35 |
24 |
1 |
| 247200 |
Miller-Dieker |
9 |
4 ^ |
5 ^ |
- |
| 118220/162500 |
Charcot-Marie-Tooth/Neuropathy, Hereditary, With Liability To Pressure Palsies |
7 |
4 |
3 |
- |
| 182290/610883 |
Smith-Magenis/17p11.2 |
10 |
8 |
2 |
- |
| 613675 |
17q11.2 |
4 |
4 |
- |
- |
| 137920 |
Renal Cysts And Diabetes |
10 |
10 |
- |
- |
| 610443/613533 |
17q21.31 |
3 |
2 |
1 |
- |
| 115470 |
Cat-Eye |
1 |
- |
1 ^ |
- |
| 188400/192430/608363 |
22q11.2 |
83 |
64 |
19 |
- |
| 611867 |
Distal 22q11.2 |
9 |
2 |
7 |
- |
| 606232 |
Phelan-Mcdermid |
8 |
8 |
- |
- |
| 308100 |
X-linked Ichthyosis |
11 |
11 ^^ |
- |
- |
| 312080 |
Pelizaeus-Merzbacher |
1 |
- |
- |
1 |
| 312750/300260 | Rett/MECP2 | 2 | - | 2 ^^^ | - |
$ Susceptibility locus / incomplete penetrance.
* Tatton-Brown (2009). 15q overgrowth syndrome: a newly recognized phenotype associated with overgrowth, learning difficulties, characteristic facial appearance, renal anomalies and increased dosage of distal chromosome 15q. Am J Med Genet 149:147.
** Hanner (2009). Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant. J Med Genet 46:223.
^ This patient was mosaic.
^^ all cases were x0 copy nullisomy in males.
^^^ all cases were x2 copies duplication in males.