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CHROMOSOME #3 -
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(3)mat | UPD(3)pat | UPD(3)mat or pat |
the
probably non-dosage sensitive
pericentric region of chromosome
3
schematic
cytogenetic
depiction
short (= p-) arm
het
long (= q-) arm
p21
p14
p13
p12
cen
q12
q13
q21
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
unknown
74.67
89.40 - 93.20
104.78
unknown
GRCh
37/ hg19
unknown
73.17
87.90 - 93.90
105.48
unknown
acc. to cases marked as
***
| body region | signs and symptoms | 3p-cen-near [%] |
3q-cen-near [%] |
| bone | skoliosis | 50 | 0 |
| fingers | clinodactyly | 100 | 0 |
| gentalia (male) | hypospadias (male) | 50 | 0 |
| growth | growth retardation (prenatal and/or postnatal) | 50 | 100 |
| hands | hands with simian crease | 50 | 0 |
| head - eyes | blepharophimosis / ptosis | 50 | 0 |
| head - face | facial dysmorphism (no details given, or others than listed; i.e. unspecific ones) | 100 | 0 |
| hypertelorism and / or telecanthus | 50 | 0 | |
| head - skull/ brain | skull - other malformations | 50 | 0 |
| heart | patent ductus arteriousus (PDA) | 50 | 0 |
| mental | developmental delay | 100 | 100 |
| muscles | hypotonia | 50 | 0 |
| cases included | 2 | 1 |