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CHROMOSOME #7 -
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(7)mat | UPD(7)pat | UPD(7)mat or pat |
the
probably non-dosage sensitive
pericentric region of chromosome
7
schematic
cytogenetic
depiction
short (= p-) arm
het
long (= q-) arm
p15
p14
p13
p12
p11.2
q11.2
q21.1
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
55.42
54.49
57.40 - 61.10
67.00
74.00
GRCh
37/ hg19
55.45
54.55
58.00 - 61.70
67.34
74.34
acc. to cases marked as
***
| body region | signs and symptoms |
7p-cen-near [%] |
7q-cen-near [%] |
| fingers | short | 0 | 20 |
| growth | growth retardation (prenatal and/or postnatal) | 67 | 0 |
| obesity | 0 | 40 | |
| overgrowth (prenatal and/or postnatal) | 0 | 30 | |
| hands | hands with simian crease | 0 | 10 |
| head - eyes | blepharophimosis / ptosis | 0 | 10 |
| strabism | 0 | 10 | |
| head - face | cleft palate | 0 | 10 |
| epicanthus | 0 | 30 | |
| facial dysmorphism (no details given, or others than listed; i.e. unspecific ones) | 67 | 90 | |
| hypertelorism and / or telecanthus | 0 | 10 | |
| micrognathia | 0 | 20 | |
| nose short and/or broad | 0 | 30 | |
| palate high arched | 0 | 10 | |
| head - skull/ brain | macrocephaly/ hydrocephalus | 33 | 30 |
| ventriculomegaly | 0 | 20 | |
| heart | artrial septal defect (ASD) | 0 | 10 |
| mental | attention deficit disorder | 0 | 20 |
| autism | 0 | 10 | |
| developmental delay | 33 | 100 | |
| mental retardation | 67 | 60 | |
| muscles | hypotonia | 0 | 20 |
| skin | hirsutism | 0 | 10 |
| cases included | 3 | 10 |