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CHROMOSOME #13 -
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(13)mat | UPD(13)pat | UPD(13)mat or pat |
the
probably non-dosage sensitive
pericentric region of chromosome
13
schematic
cytogenetic
depiction
het
long (= q-) arm
short (= p-) arm
cen
q12
q13
q14
no clinical
signs
clinical
signs
schematic
molecular-
cytogenetic
depiction
Data is converted
between genome versions by
UCSC browser!
Note the changes
defined there for
centromere-sizes; due to that
and due to 'new insertions and
deletions', positions are not
always seeming logical
comparing different versions
listed
Positions
given in megabasepair (Mbp)
genomic
version
critical
region
p-armcentromere
uncritical
region
q-armcritical
region
q-arm
NCBI
36/ hg18
p-tel
18.40
19.32
22.29
GRCh
37/ hg19
p-tel
19.50
20.42
23.39
GRCh
38/ hg38
p-tel
18.90
19.85
22.82
acc. to cases marked as
***
| body region | signs and symptoms | 13q-cen-near [%] |
neo 13qter [%] |
| bone | skeletal abnormalities | 0 | 5 |
| skoliosis | 10 | 5 | |
| colon | situs inversus | 0 | 5 |
| fingers | clinodactyly | 0 | 10 |
| polydactyly | 0 | 14 | |
| tapering | 0 | 5 | |
| gentalia (male) | hypospadias (male) | 0 | 10 |
| growth | assymmetry (body or parts of) | 0 | 14 |
| growth retardation (prenatal and/or postnatal) | 70 | 29 | |
| obesity | 10 | 5 | |
| overgrowth (prenatal and/or postnatal) | 10 | 14 | |
| head - eyes | blindness | 0 | 5 |
| coloboma | 0 | 10 | |
| strabism | 70 | 10 | |
| head - face | cleft palate | 10 | 10 |
| epicanthus | 70 | 10 | |
| facial dysmorphism (no details given, or others than listed; i.e. unspecific ones) | 90 | 57 | |
| hypertelorism and / or telecanthus | 0 | 19 | |
| hypotelorism | 0 | 5 | |
| micrognathia | 0 | 10 | |
| nose long and/or bulbous | 10 | 0 | |
| palate high arched | 0 | 5 | |
| retrognathia | 10 | 0 | |
| head - skull/ brain | macrocephaly/ hydrocephalus | 0 | 5 |
| microcephaly | 80 | 14 | |
| pits preauricular | 0 | 14 | |
| skull - other malformations | 10 | 0 | |
| teath in excess | 0 | 10 | |
| heart | heart defect (not specified) | 0 | 5 |
| kidney | problems/ malformations | 0 | 10 |
| mental | attention deficit disorder | 0 | 10 |
| developmental delay | 10 | 29 | |
| mental retardation | 70 | 10 | |
| muscles | ataxia | 0 | 5 |
| hypotonia | 0 | 10 | |
| neuronal | seizures | 0 | 24 |
| prenatal | pregnancy loss or termination of pregnance | 10 | 24 |
| skin | hypomelanotic streaks | 0 | 5 |
| cases included | 10 | 21 |