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 |
-
CHROMOSOME #8 -
START
| clinical
symptoms |
In general 70%
of sSMC carriers are clinically normal.
The figures listed above
are based on the bias, that
mainly clinically aberrant cases are studied and
reported in literature!
| UPD (uniparental disomy) cases: | UPD(8)mat | UPD(8)pat | UPD(8)mat or pat |
the
probably non-dosage sensitive
pericentric region of
chromosome 8
schematic
cytogenetic
depiction
short (= p-) arm
het
long (= q-) arm
p22
p21
p12
p11.2
cen
q11.2
q12
q13
????
no clinical
signs
clinical
signs
schematic
molecular-
cytogenetic
depiction
Positions
given in megabasepair (Mbp)
critical
region
p-armuncritical
region
p-armcentromere
uncritical
region
q-armcritical
region
q-arm
NCBI
36/ hg18
40.35
40.87
43.20
- 48.10
61.33
unknown
GRCh
37/ hg19
40.15
40.97
43.10
- 48.10
61.15
unknown
acc. to cases marked as
***
| 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 |