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CHROMOSOME #5 -
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(5)mat | UPD(5)pat | UPD(5)mat or pat |
the
probably non-dosage sensitive
pericentric region of chromosome
5
schematic
cytogenetic
depiction
short (= p-) arm
het
long (= q-) arm
p15
p14
p13
p12
cen
q11.2
q12
q13
q14
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
30.64
37.21
45.80 - 50.50
55.27
61.21
GRCh
37/ hg19
30.64
37.17
46.10 - 50.70
55.22
61.14
acc. to cases marked as
***
| body region | signs and symptoms | 5p-cen-near [%] |
5q-cen-near [%] |
i(5p) [%] |
| bone | skoliosis | 8 | 0 | 0 |
| feet | club foot | 8 | 0 | 60 |
| feet other abnormalities | 16 | 0 | 0 | |
| fingers | clinodactyly | 0 | 0 | 20 |
| long | 16 | 0 | 0 | |
| growth | assymmetry (body or parts of) | 8 | 0 | 0 |
| growth retardation (prenatal and/or postnatal) | 25 | 33 | 0 | |
| obesity | 8 | 0 | 0 | |
| overgrowth (prenatal and/or postnatal) | 8 | 0 | 0 | |
| head - eyes | strabism | 25 | 0 | 0 |
| head - face | cleft palate | 0 | 0 | 10 |
| epicanthus | 41 | 0 | 30 | |
| facial dysmorphism (no details given, or others than listed; i.e. unspecific ones) | 67 | 67 | 100 | |
| hypertelorism and / or telecanthus | 33 | 0 | 40 | |
| hypotelorism | 0 | 33 | 0 | |
| micrognathia | 0 | 0 | 50 | |
| nose long and/or bulbous | 8 | 0 | 0 | |
| nose short and/or broad | 16 | 0 | 0 | |
| palate high arched | 0 | 0 | 10 | |
| retrognathia | 8 | 0 | 50 | |
| head - skull/ brain | dolichocephaly | 8 | 0 | 30 |
| macrocephaly/ hydrocephalus | 33 | 0 | 70 | |
| microcephaly | 16 | 0 | 0 | |
| pits preauricular | 0 | 0 | 20 | |
| ventriculomegaly | 0 | 0 | 60 | |
| heart | artrial septal defect (ASD) | 8 | 0 | 0 |
| heart defect (not specified) | 8 | 0 | 10 | |
| ventricular septal defect (VSD) | 33 | 0 | 0 | |
| mental | attention deficit disorder | 8 | 0 | 0 |
| autism | 8 | 0 | 0 | |
| developmental delay | 33 | 100 | 60 | |
| mental retardation | 41 | 0 | 70 | |
| muscles | hypotonia | 41 | 33 | 70 |
| neuronal | seizures | 8 | 0 | 70 |
| prenatal | oligohydramnion | 0 | 0 | 10 |
| omphalocoele | 0 | 0 | 10 | |
| pregnancy loss or termination of pregnance | 8 | 0 | 10 | |
| polyhydramnion | 16 | 0 | 0 | |
| skin | hirsutism | 0 | 0 | 0 |
| hyperpigmentation / streaky pigmentation | 8 | 0 | 40 | |
| cases included | 12 | 3 | 10 |