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CHROMOSOME #21 -
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(21)mat | UPD(21)pat | UPD(21)mat or pat |
the
probably non-dosage sensitive
pericentric region of chromosome
21
schematic
cytogenetic
depiction
het
long (= q-) arm
short (= p-) arm
cen
q21
q22
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
13.20
17.81
18.10
GRCh
37/ hg19
p-tel
14.30
18.86
19.15
acc. to cases marked as
***
| body region | signs and symptoms | 21q-cen-near [%] |
| bone | skoliosis | 14 |
| growth | growth retardation (prenatal and/or postnatal) | 29 |
| obesity | 14 | |
| head - face | facial dysmorphism (no details given, or others than listed; i.e. unspecific ones) | 57 |
| nose long and/or bulbous | 14 | |
| head - skull/ brain | microcephaly | 14 |
| mental | attention deficit disorder | 14 |
| autism | 29 | |
| developmental delay | 71 | |
| mental retardation | 29 | |
| muscles | hypotonia | 29 |
| cases included | 7 |