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CHROMOSOME #11 -
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(11)mat | UPD(11)pat | UPD(11)mat or pat |
the
probably non-dosage sensitive
pericentric region of chromosome
11
schematic
cytogenetic
depiction
short (= p-) arm
het
long (= q-) arm
p14
p13
p12
p11
cen
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
50.47
50.95
51.40 - 56.40
60.23
65.02
GRCh
37/ hg19
50.47
50.95
51.60 - 55.70
60.43
65.22
acc. to cases marked as
***
| body region | signs and symptoms | 11p-cen-near [%] |
11q-cen-near [%] |
| growth | growth retardation (prenatal and/or postnatal) | 25 | 0 |
| head - eyes | blepharophimosis / ptosis | 0 | 25 |
| strabism | 0 | 50 | |
| head - face | cleft palate | 25 | 0 |
| facial dysmorphism (no details given, or others than listed; i.e. unspecific ones) | 25 | 50 | |
| head - skull/ brain | macrocephaly/ hydrocephalus | 0 | 25 |
| skull - other malformations | 25 | 0 | |
| heart | heart defect (not specified) | 0 | 25 |
| mental | developmental delay | 50 | 75 |
| mental retardation | 25 | 25 | |
| muscles | hypotonia | 25 | 25 |
| prenatal | pregnancy loss or termination of pregnance | 25 | 0 |
| cases included | 4 | 4 |