body region |
signs and symptoms |
8p-cen-near
[%]
|
8q-cen-near
[%]
|
i(8p)
[%]
|
neo 8pter
[%]
|
bone |
skeletal
abnormalities |
0 |
0 |
60 |
0 |
|
skoliosis |
8 |
0 |
0 |
0 |
feet |
club
foot |
0 |
18 |
0 |
0 |
fingers |
camptodactyly
|
0 |
0 |
0 |
17 |
|
clinodactyly |
4 |
0 |
0 |
0 |
|
long |
0 |
0 |
10 |
0 |
|
polydactyly |
0 |
9 |
0 |
0 |
gentalia
(female) |
amenorrhea |
4 |
0 |
0 |
0 |
gentalia
(male) |
hypospadias
(male) |
4 |
0 |
0 |
0 |
|
testicles
undescended (male) |
0 |
0 |
0 |
17 |
growth |
assymmetry
(body or parts of) |
8 |
0 |
10 |
0 |
|
growth
retardation (prenatal and/or postnatal) |
0 |
0 |
50 |
33 |
|
obesity |
4 |
0 |
10 |
0 |
|
overgrowth
(prenatal and/or postnatal) |
16 |
27 |
0 |
0 |
head
- eyes |
blepharophimosis
/ ptosis |
4 |
9 |
0 |
0 |
|
strabism |
4 |
0 |
0 |
0 |
head
- face |
epicanthus |
8 |
18 |
0 |
0 |
|
facial
dysmorphism (no details given, or others than
listed; i.e. unspecific ones) |
42 |
73 |
20 |
17 |
|
hypertelorism
and / or telecanthus |
4 |
18 |
0 |
0 |
|
hypotelorism |
0 |
0 |
10 |
0 |
|
micrognathia |
4 |
0 |
0 |
0 |
|
nose
long and/or bulbous |
0 |
9 |
0 |
0 |
|
palate
high arched |
8 |
0 |
0 |
17 |
head
- skull/ brain |
macrocephaly/
hydrocephalus |
12 |
0 |
0 |
17 |
|
microcephaly |
0 |
18 |
10 |
0 |
|
plagiocephaly |
0 |
9 |
0 |
0 |
|
skull
- other malformations |
0 |
0 |
80 |
0 |
|
ventriculomegaly |
0 |
0 |
50 |
0 |
heart |
artrial
septal defect (ASD) |
0 |
0 |
40 |
0 |
|
cardiomypathy
hypertrophic |
0 |
9 |
0 |
0 |
|
heart
defect (not specified) |
0 |
0 |
0 |
17 |
|
patent
ductus arteriousus (PDA) |
0 |
0 |
30 |
17 |
|
ventricular
septal defect (VSD) |
4 |
0 |
50 |
0 |
joints |
joints
hyperextensible/-flexible |
12 |
0 |
0 |
0 |
mental |
attention
deficit disorder |
16 |
0 |
0 |
33 |
|
autism |
21 |
9 |
0 |
0 |
|
developmental
delay |
67 |
64 |
60 |
83 |
|
mental
retardation |
33 |
18 |
80 |
67 |
muscles |
hypertonia |
0 |
0 |
0 |
17 |
|
hypotonia |
8 |
27 |
50 |
0 |
neuronal |
seizures |
4 |
0 |
10 |
0 |
prenatal |
omphalocoele |
0 |
9 |
0 |
0 |
|
pregnancy
loss or termination of pregnance |
4 |
9 |
10 |
0 |
|
polyhydramnion |
0 |
0 |
10 |
0 |
skin |
hirsutism |
0 |
0 |
0 |
17 |
|
|
|
|
|
|
|
cases included |
24 |
11 |
10 |
6 |