body region |
signs and symptoms |
15q12-cen-near (3x)
[%]
|
15q12-cen-near (4x)
[%]
|
15q14-cen-near (3x)
[%]
|
15q14-cen-near (4x)
[%]
|
15q14-cen-near (6x)
[%]
|
neo 15qter
[%]
|
bone |
skeletal
abnormalities |
0 |
0 |
0 |
0 |
0 |
4 |
|
skoliosis |
0 |
0 |
0 |
0 |
0 |
13 |
fingers |
camptodactyly
|
0 |
0 |
0 |
0 |
0 |
9 |
|
clinodactyly |
0 |
0 |
14 |
0 |
0 |
4 |
|
long |
0 |
0 |
0 |
0 |
0 |
17 |
|
polydactyly |
0 |
0 |
0 |
0 |
9 |
0 |
|
short |
0 |
0 |
14 |
0 |
0 |
0 |
gentalia (female) |
amenorrhea |
0 |
1 |
0 |
0 |
0 |
0 |
gentalia (male) |
cryptorchidism
(male) |
0 |
4 |
0 |
0 |
0 |
0 |
|
testicles
undescended (male) |
0 |
0 |
0 |
0 |
0 |
4 |
growth |
assymmetry
(body or parts of) |
0 |
0 |
0 |
0 |
0 |
22 |
|
growth
retardation (prenatal and/or postnatal) |
20 |
2 |
14 |
2 |
27 |
4 |
|
obesity |
0 |
0 |
0 |
1 |
0 |
0 |
|
overgrowth
(prenatal and/or postnatal) |
0 |
0 |
0 |
0 |
0 |
30 |
head - eyes |
strabism |
0 |
1 |
0 |
1 |
9 |
9 |
head - face |
cleft
palate |
0 |
0 |
0 |
0 |
9 |
0 |
|
epicanthus |
0 |
5 |
14 |
0 |
0 |
17 |
|
facial
dysmorphism (no details given, or others than
listed; i.e. unspecific ones) |
40 |
17 |
14 |
4 |
36 |
78 |
|
hearing
loss / problems |
0 |
0 |
0 |
0 |
0 |
22 |
|
hypertelorism
and / or telecanthus |
0 |
1 |
0 |
0 |
0 |
0 |
|
micrognathia |
0 |
0 |
0 |
0 |
0 |
26 |
|
nose
short and/or broad |
0 |
0 |
0 |
1 |
0 |
0 |
|
palate
high arched |
20 |
0 |
0 |
0 |
0 |
13 |
|
retrognathia |
0 |
0 |
0 |
0 |
0 |
13 |
head - skull/ brain |
macrocephaly/
hydrocephalus |
0 |
1 |
0 |
0 |
0 |
4 |
|
microcephaly |
0 |
0 |
29 |
1 |
18 |
4 |
|
skull
- other malformations |
0 |
0 |
14 |
0 |
9 |
0 |
heart |
artrial
septal defect (ASD) |
20 |
0 |
14 |
0 |
0 |
4 |
|
heart
defect (Fallot tetralogy) |
0 |
1 |
0 |
0 |
0 |
0 |
|
heart
defect (not specified) |
0 |
0 |
0 |
1 |
18 |
9 |
|
patent
ductus arteriousus (PDA) |
0 |
0 |
0 |
0 |
0 |
4 |
|
ventricular
septal defect (VSD) |
0 |
0 |
14 |
0 |
0 |
4 |
kidney |
problems/
malformations |
20 |
0 |
0 |
0 |
0 |
9 |
mental |
attention
deficit disorder |
0 |
1 |
0 |
0 |
0 |
0 |
|
autism |
0 |
1 |
14 |
56 |
0 |
0 |
|
behavioural
problems |
0 |
45 |
43 |
4 |
0 |
70 |
|
developmental
delay |
80 |
77 |
67 |
96 |
91 |
70 |
|
mental
retardation |
20 |
96 |
67 |
97 |
91 |
65 |
|
no
speech |
0 |
0 |
0 |
0 |
9 |
0 |
muscles |
hypotonia |
20 |
8 |
0 |
4 |
36 |
17 |
neuronal |
seizures |
0 |
11 |
14 |
30 |
72 |
4 |
prenatal |
breech
position |
0 |
0 |
0 |
0 |
0 |
4 |
|
pregnancy
loss or termination of pregnance |
0 |
1 |
0 |
0 |
0 |
9 |
skin |
hyperpigmentation
/ streaky pigmentation |
0 |
0 |
0 |
3 |
0 |
0 |
|
hypomelanotic
streaks |
0 |
0 |
0 |
0 |
0 |
4 |
|
|
|
|
|
|
|
|
|
cases included |
5 |
75 |
7 |
171 |
11 |
23 |