Subtelomeric/Pericentromeric |
A | 1 | Deletion 18q22.1 | MR++‡ | Female | FISH¶ clone ID:TV 18q | Yes: 500–550 bands | MR, small stature, hearing loss, TAPVR,†† mild facial dysmorphism, tapering fingers | Yes | Many: latest are15,33 |
B | 2 | Deletion 16p13.3 | DD only§ | Male | FISH clone ID;COS15A | No | Moderate MR, mild facial dysmorphism, mild alpha thalassemia | Yes | Many: latest is17 |
C | | Deletion 6p25 | DD only | Male | FISH clone ID: TV 6p | Yes: 500–550 bands | Moderate MR, iris dysplasia, excentric pupil, hypertelorism, hearing loss | Yes |
34,
35
|
D | | Deletion pericentromeric region of chr. 22, duplication of 22q11.2 | MR++ | Male | FISH clone ID: RP11_3018K1 | No | Mild MR, hearing loss, palatoschisis, cataract, microcephaly, double set of teeth | ? | Kriek et al† |
E | | Deletion 6qtel, duplication 20qtel | MR++ | Male | FISH clone ID:57H24 (6q), 81F12 (20q) MLPA** | No | MR, hypotonicity, microcephaly, brain anomalies, mild facial dysmorphism. | * | |
F | | Deletion 7ptel | DD only | Male | MLPA | No | Mild developmental delay in early childhood, mild facial dysmorphism | No/? |
36
|
G | | Duplication 1ptel | MR++ | Female | FISH clone ID: 785P20, 37J18 | Yes: 500–550 bands | Psychomotor developmental delay, double sided ptosis, parasis of VI cranial nerve, strabismus | ? |
37
|
H | | Deletion 1ptel | MR++ | Female | FISH clone ID: 465B22, 37J18 | Doubtful: 500–550 bands | Psychomotor developmental delay, dysmorphic features, hirsutism, epilepsy | Yes |
38
|
Interstitial |
I | | Duplication 17p11.2 | MR++ | Female | FISH clone ID: LSI-SMS | No | MR, microcephaly, retrognathia, tapering acra, hypertelorism, synophrys, epilepsy | ? |
39
|
J | 3 | Deletion 17p11.2 | DD only | Male | FISH clone ID: LSI-SMS, MLPA | No | Psychomotor developmental delay (speech delay), infantile hypotonicity, tent shaped mouth | Yes | Many: latest is40 |
K | 4 | Deletion 4q34.1 | DD only | Male | FISH clone ID: RP11-475B2 | No | Mild learning disability, short stature, severe delay of bone maturation, aberrant hand shape | Yes |
19
|
L | 5 | Duplication 20p12.2 | DD only | Male | MLPA | No | Mild MR, psychiatric disorder | ? |
21
|
M | 6 | Duplication 22q11.2 | MR++ | Female | FISH clone ID: LSI TUPLE1 | No | Severe psychomotor retardation, short stature, microcephaly, facial dysmorphism, epilepsy, brain anomalies, renal aplasia | ? |
41,
42
|
N | | Deletion 22q11.2 | MR++ | Female | FISH clone ID LSI TUPLE1 | No | Developmental delay, tetralogy of Fallot, absent pulmonary valve, respiratory complications | Yes | Many: latest is43 |
O | | Duplication 14q11.2 | DD only | Male | MLPA | No | MR, mild facial dysmorphism, short hands and feet, shawl scrotum | No/? | |