Locus
|
Reported anomaly
|
Other phenotypic features
|
Reference
|
1q | Del(1)(q32q42)de novo | Low set ears |
17
|
Neck webbing |
Hypospadias |
Undescended testes |
Bilateral equinovarus |
Camptodactyly |
3q | Mosaic del(3)(q11.1q13.2)de novo | No | This case |
Del(3)(q21q23)de novo | BPES |
16
|
4p | Del(4)(p16)de novo | Wolf-Hirschhorn syndrome |
6
|
del(4)(p16)de novo | Dandy-Walker malformation |
6
|
8p | del(8)(p23.1)de novo | AVSD |
18
|
del(8)(p23.1)de novo | Facial dysmorphism |
6
|
Dolichocephaly |
Tricuspid stenosis |
8q | t(8;13)(q22.3;q22)mat | No |
7 |
t(8;15)(q22.3;q15)de novo | No |
7 |
12p | Mosaic tetrasomy 12p | Pallister-Killian syndrome |
19, 20 |
15q | t(5;15)(p15.3;q24)mat ?unbalanced | No |
21 |
t(15;17)(q24.3;q23.3)pat unbalanced | No |
6 |
del(15)(q24qter) | No |
22
|
t(1;15)(q41;q21.2)de novo | Fallot's tetralogy |
23
|
Severe microphthalmia |