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CHROMOSOME #22 -
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(22)mat | UPD(22)pat | UPD(22)mat or pat |
the
probably non-dosage sensitive
pericentric region of chromosome
22
schematic
cytogenetic
depiction
het
long (= q-) arm
short (= p-) arm
cen
q11.2
q12
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-armcentromere
uncritical
region
q-armcritical
region
q-arm
NCBI
36/ hg18
p-tel
16.30
16.37
(x4);
17.23 (3x)
17.00
GRCh
37/ hg19
p-tel
17.90
18.00
(4x); 18.85 (3x)
18.62 (4x)
GRCh
38/ hg38
p-tel
17.40
17.51
(4x);
18.86 (3x)
18.14
(4x)
acc.
to cases marked as ***
| body region | signs and symptoms \ chromosomal region (case numbers) | 22q-cen-near [%] |
Cat eye syndrome [%] |
Emanuel syndrome [%] |
| bone | skeletal abnormalities | 0 | 14 | 0 |
| skoliosis | 8 | 14 | 32 | |
| colon | anal atresia | 0 | 69 | 14 |
| situs inversus | 0 | 0 | 8 | |
| gentalia (female) | amenorrhea | 8 | 0 | 0 |
| hypoplastic labia majora | 0 | 8 | 0 | |
| gentalia (male) | cryptorchidism (male) | 0 | 0 | 46 |
| hypospadias (male) | 0 | 11 | 64 | |
| testicles undescended (male) | 0 | 9 | 0 | |
| growth | assymmetry (body or parts of) | 8 | 0 | 0 |
| growth retardation (prenatal and/or postnatal) | 17 | 36 | 0 | |
| obesity | 8 | 0 | 0 | |
| head - eyes | coloboma | 0 | 60 | 0 |
| Duane anomaly | 17 | 0 | 0 | |
| strabism | 0 | 0 | 33 | |
| head - face | cleft palate | 0 | 17 | 54 |
| epicanthus | 0 | 32 | 0 | |
| facial dysmorphism (no details given, or others than listed; i.e. unspecific ones) | 58 | 53 | 0 | |
| hearing loss / problems | 0 | 12 | 72 | |
| hypertelorism and / or telecanthus | 17 | 0 | 0 | |
| micrognathia | 8 | 30 | 60 | |
| head - skull/ brain | macrocephaly/ hydrocephalus | 8 | 0 | 0 |
| microcephaly | 8 | 17 | 0 | |
| pits preauricular | 0 | 88 | 33 | |
| ventriculomegaly | 8 | 0 | 0 | |
| heart | artrial septal defect (ASD) | 0 | 17 | 45 |
| Epstein anomaly | 8 | 0 | 0 | |
| heart defect (Fallot tetralogy) | 0 | 8 | 0 | |
| heart defect (not specified) | 8 | 0 | 10 | |
| patent ductus arteriousus (PDA) | 0 | 8 | 11 | |
| ventricular septal defect (VSD) | 8 | 20 | 13 | |
| kidney | problems/ malformations | 17 | 0 | 36 |
| mental | attention deficit disorder | 8 | 2 | 0 |
| developmental delay | 42 | 0 | 0 | |
| mental retardation | 42 | 42 | 0 | |
| muscles | ataxia | 0 | 2 | 0 |
| hypotonia | 25 | 0 | 0 | |
| neuronal | seizures | 0 | 4 | 0 |
| prenatal | pregnancy loss or termination of pregnance | 8 | 0 | 0 |
| cases included | 12 | 90 | 100 |