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CHROMOSOME #14 -
START
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(14)mat | UPD(14)pat | UPD(14)mat or pat |
the
probably non-dosage sensitive
pericentric region of chromosome
14
schematic
cytogenetic
depiction
het
long (= q-) arm
short (= p-) arm
cen
q11.2
q12
q13
q21
no clinical
signs
clinical
signs
schematic
molecular-
cytogenetic
depiction
Positions
given in megabasepair (Mbp)
critical
region
p-armcentromere
uncritical
region
q-armcritical
region
q-arm
NCBI
36/ hg18
p-tel
19.10
20.24
20.17
GRCh
37/ hg19
p-tel
19.10
20.24
20.97
acc. to cases marked as
***
| body region | signs and symptoms |
14q-cen-near [%] |
| bone | skoliosis | 6 |
| feet | feet other abnormalities | 11 |
| fingers | camptodactyly | 17 |
| clinodactyly | 11 | |
| long | 6 | |
| short | 6 | |
| gentalia (male) | hypogonadotopic hypogonadism (male) | 17 |
| testicles undescended (male) | 6 | |
| growth | assymmetry (body or parts of) | 6 |
| growth retardation (prenatal and/or postnatal) | 39 | |
| head - eyes | blepharophimosis / ptosis | 22 |
| blindness | 6 | |
| coloboma | 11 | |
| strabism | 33 | |
| head - face | cleft palate | 17 |
| epicanthus | 11 | |
| facial dysmorphism (no details given, or others than listed; i.e. unspecific ones) | 83 | |
| hearing loss / problems | 11 | |
| hypotelorism | 22 | |
| micrognathia | 6 | |
| retrognathia | 6 | |
| head - skull/ brain | microcephaly | 55 |
| skull - other malformations | 17 | |
| ventriculomegaly | 11 | |
| heart | heart defect (not specified) | 6 |
| kidney | problems/ malformations | 6 |
| mental | developmental delay | 33 |
| mental retardation | 50 | |
| muscles | hypotonia | 17 |
| neuronal | seizures | 11 |
| prenatal | oligohydramnion | 6 |
| omphalocoele | 6 | |
| pregnancy loss or termination of pregnance | 17 | |
| polyhydramnion | 6 | |
| cases included | 18 |