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CHROMOSOME #20 -
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(20)mat | UPD(20)pat | UPD(20)mat or pat |
the
probably non-dosage sensitive
pericentric region of chromosome
20
schematic
cytogenetic
depiction
short (= p-) arm
het
long (= q-) arm
p12
p11.2
cen
q11.2
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
unknown
14.90
25.70 - 28.40
29.93
30.12
GRCh
37/ hg19
unknown
14.80
25.60 - 29.40
30.52
31.35
acc. to cases marked as
***
| body region | signs and symptoms | 20p-cen-near [%] |
20q-cen-near [%] |
| fingers | clinodactyly | 0 | 17 |
| growth | growth retardation (prenatal and/or postnatal) | 33 | 33 |
| head - eyes | blindness | 0 | 17 |
| nystagmus | 0 | 17 | |
| head - face | epicanthus | 0 | 17 |
| facial dysmorphism (no details given, or others than listed; i.e. unspecific ones) | 33 | 50 | |
| hypotelorism | 33 | 0 | |
| head - skull/ brain | macrocephaly/ hydrocephalus | 33 | 0 |
| microcephaly | 0 | 33 | |
| skull - other malformations | 33 | 0 | |
| heart | artrial septal defect (ASD) | 33 | 0 |
| mental | developmental delay | 33 | 33 |
| mental retardation | 0 | 33 | |
| muscles | hypotonia | 0 | 17 |
| prenatal | oligohydramnion | 0 | 17 |
| cases included | 3 | 6 |