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CHROMOSOME #1 -
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(1)mat | UPD(1)pat | UPD(1)mat or pat |
the
probably non-dosage sensitive
pericentric region of
chromosome 1
schematic
cytogenetic
depiction
short (=
p-) arm
heterochromatin
long (=
q-) arm
p22.1
p21
p13
p12
cen
q12
q13
q22
q23
no
clinical
signs
clinical
signs
schematic
molecular-
cytogenetic
depiction
Data is converted
between genome versions by
UCSC browser!
Note the
changes defined there for
centromere-sizes; due to
that and due to 'new
insertions and deletions',
positions are not always
seeming logical comparing
different versions listed
Positions
given in megabasepair (Mbp)
genomic
version
critical
region
p-armuncritical
region
p-armcentromere
uncritical
region
q-armcritical
region
q-arm
NCBI
36/ hg18
115.3
115.86
121.10
- 142.40
unknown
unknown
GRCh
37/ hg19
115.49
116.05
121.50
- 142.60
unknown
unknown
GRCh
38/ hg38
114.96
115.52
121.70
- 143.20
unknown
unknown
acc. to cases marked as
***
| body region | signs and symptoms |
1p-cen-near [%] |
1q-cen-near [%] |
| skoliosis | 0 | 7 | |
| feet | club foot | 0 | 7 |
| feet other abnormalities | 10 | 0 | |
| fingers | camptodactyly | 24 | 0 |
| clinodactyly | 19 | 7 | |
| short | 0 | 13 | |
| tapering | 5 | 0 | |
| gentalia (female) | hypoplastic labia majora | 0 | 7 |
| gentalia (male) | cryptorchidism (male) | 5 | 13 |
| hypospadias (male) | 0 | 7 | |
| testicles undescended (male) | 0 | 7 | |
| growth | assymmetry (body or parts of) | 14 | 20 |
| growth retardation (prenatal and/or postnatal) | 34 | 54 | |
| overgrowth (prenatal and/or postnatal) | 0 | 7 | |
| hands | hands in flexion | 0 | 7 |
| hands with simian crease | 0 | 7 | |
| head - eyes | blepharophimosis / ptosis | 19 | 0 |
| head - face | cleft palate | 10 | 20 |
| epicanthus | 19 | 7 | |
| facial dysmorphism (no details given, or others than listed; i.e. unspecific ones) | 34 | 40 | |
| hypertelorism and / or telecanthus | 24 | 7 | |
| hypotelorism | 5 | 0 | |
| micrognathia | 5 | 33 | |
| nose long and/or bulbous | 10 | 13 | |
| nose short and/or broad | 10 | 13 | |
| palate high arched | 14 | 40 | |
| retrognathia | 0 | 13 | |
| head - skull/ brain | dolichocephaly | 5 | 0 |
| macrocephaly/ hydrocephalus | 5 | 13 | |
| microcephaly | 24 | 33 | |
| plagiocephaly | 5 | 0 | |
| ventriculomegaly | 5 | 0 | |
| heart | cardiomegalie | 0 | 7 |
| cardiomypathy hypertrophic | 0 | 13 | |
| heart defect (Fallot tetralogy) | 0 | 7 | |
| heart defect (not specified) | 0 | 20 | |
| heart defect (wholes in wall and other severe defects) | 0 | 13 | |
| patent ductus arteriousus (PDA) | 5 | 7 | |
| ventricular septal defect (VSD) | 14 | 7 | |
| joints | joints hyperextensible/-flexible | 5 | 0 |
| joints hypoextensible | 0 | 13 | |
| kidney | duplication | 0 | 0 |
| horseshoe | 0 | 7 | |
| problems/ malformations | 5 | 7 | |
| mental | attention deficit disorder | 14 | 13 |
| autism | 29 | 7 | |
| developmental delay | 52 | 54 | |
| mental retardation | 34 | 27 | |
| no speech | 24 | 7 | |
| muscles | ataxia | 14 | 0 |
| hypotonia | 24 | 13 | |
| neuronal | seizures | 10 | 0 |
| prenatal | anhydramnion | 0 | 7 |
| breech position | 10 | 13 | |
| pregnancy loss or termination of pregnance | 34 | 7 | |
| skin | angioma | 5 | 7 |
| excess skin | 5 | 7 | |
| hirsutism | 0 | 7 | |
| nuchal edema | 5 | 0 | |
| cases included | 21 | 15 |