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 |