body
region |
signs
and symptoms |
5p-cen-near
[%]
|
5q-cen-near
[%]
|
i(5p)
[%]
|
bone |
skoliosis |
8 |
0 |
0 |
feet |
club foot |
8 |
0 |
60 |
|
feet other
abnormalities |
16 |
0 |
0 |
fingers |
clinodactyly |
0 |
0 |
20 |
|
long |
16 |
0 |
0 |
growth |
assymmetry
(body or parts of) |
8 |
0 |
0 |
|
growth
retardation (prenatal and/or postnatal) |
25 |
33 |
0 |
|
obesity |
8 |
0 |
0 |
|
overgrowth
(prenatal and/or postnatal) |
8 |
0 |
0 |
head -
eyes |
strabism |
25 |
0 |
0 |
head -
face |
cleft
palate |
0 |
0 |
10 |
|
epicanthus |
41 |
0 |
30 |
|
facial
dysmorphism (no details given, or others than
listed; i.e. unspecific ones) |
67 |
67 |
100 |
|
hypertelorism
and / or telecanthus |
33 |
0 |
40 |
|
hypotelorism |
0 |
33 |
0 |
|
micrognathia |
0 |
0 |
50 |
|
nose long
and/or bulbous |
8 |
0 |
0 |
|
nose short
and/or broad |
16 |
0 |
0 |
|
palate high
arched |
0 |
0 |
10 |
|
retrognathia |
8 |
0 |
50 |
head -
skull/ brain |
dolichocephaly |
8 |
0 |
30 |
|
macrocephaly/
hydrocephalus |
33 |
0 |
70 |
|
microcephaly |
16 |
0 |
0 |
|
pits
preauricular |
0 |
0 |
20 |
|
ventriculomegaly |
0 |
0 |
60 |
heart |
artrial
septal defect (ASD) |
8 |
0 |
0 |
|
heart
defect (not specified) |
8 |
0 |
10 |
|
ventricular
septal defect (VSD) |
33 |
0 |
0 |
mental |
attention
deficit disorder |
8 |
0 |
0 |
|
autism |
8 |
0 |
0 |
|
developmental
delay |
33 |
100 |
60 |
|
mental
retardation |
41 |
0 |
70 |
muscles |
hypotonia |
41 |
33 |
70 |
neuronal |
seizures |
8 |
0 |
70 |
prenatal |
oligohydramnion |
0 |
0 |
10 |
|
omphalocoele |
0 |
0 |
10 |
|
pregnancy
loss or termination of pregnance |
8 |
0 |
10 |
|
polyhydramnion |
16 |
0 |
0 |
skin |
hirsutism |
0 |
0 |
0 |
|
hyperpigmentation
/ streaky pigmentation |
8 |
0 |
40 |
|
|
|
|
|
|
cases included |
12 |
3 |
10 |