ChromosOmics - Database

Icon by Leon Liehr                   

                                                  -  CHROMOSOME #18 -                                                 
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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(18)mat UPD(18)pat UPD(18)mat or pat

the probably non-dosage sensitive pericentric region of chromosome 18
schematic

cytogenetic

depiction
short (= p-) arm het long (= q-) arm





















































p11.3 p11.2 cen q11.2 q12 q21






































































































































































































































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		 uncritical
region
p-arm		 centromere uncritical
region
q-arm		 critical
region
q-arm
NCBI 36/ hg18 12.59 12.80 15.40 - 17.30 18.12 19.34
GRCh 37/ hg19 12.60 12.81 15.40 - 19.00 19.87 21.09
GRCh 38/ hg38 12.60 12.81 15.40 - 21.50 22.29 23.51
  Positions given in megabasepair (Mbp)
acc. to cases marked as ***

clinical symptoms

body region signs and symptoms 18p-cen-near
[%]
 18q-cen-near
[%]
 i(18p)
[%]
bone skeletal abnormalities 0 0 22

skoliosis 0 0 29
feet feet other abnormalities 0 17 0
fingers clinodactyly 0 17 0
gentalia (male) cryptorchidism (male) 0 17 17

hypospadias (male) 0 0 2
growth growth retardation (prenatal and/or postnatal) 25 33 27

obesity 0 33 0
head - eyes strabism 0 0 38
head - face cleft palate 0 0 3

facial dysmorphism (no details given, or others than listed; i.e. unspecific ones) 50 0 0

hearing loss / problems 0 0 10

hypotelorism 0 17 0

nose short and/or broad 0 17 0
head - skull/ brain macrocephaly/ hydrocephalus 0 17 0

microcephaly 0 33 48

skull - other malformations 25 0 0
heart artrial septal defect (ASD) 0 17 0

heart defect (not specified) 0 0 22

ventricular septal defect (VSD) 25 0 0
joints joints hyperextensible/-flexible 0 33 0
kidney problems/ malformations 0 33 0
mental attention deficit disorder 25 17 0

autism 0 17 0

developmental delay 50 17 100

mental retardation 25 17 100
muscles hypotonia 0 17 73
neuronal seizures 0 0 22
skin hyperpigmentation / streaky pigmentation 0 33 0






cases included 4 6 107