ChromosOmics - Database

Icon by Leon Liehr                   

                                                  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




genomic version
critical
region
p-arm
centromere uncritical
region
q-arm
critical
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)
  Positions given in megabasepair (Mbp)
acc. to cases marked as ***

clinical symptoms

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