ChromosOmics - Database

Icon by Leon Liehr                   

                                                  -  CHROMOSOME #2 -                                                 
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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(2)mat UPD(2)pat UPD(2)mat or pat

the probably non-dosage sensitive pericentric region of chromosome 2
schematic

cytogenetic

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



























p16 p15 p14 p13 p12
 p11.2
 cen q11.2
 q12 q13 q14











































































































































































































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 80.70 85.62 91.00 - 95.70 103.01 103.47
GRCh 37/ hg19 80.85 85.77 90.50 - 96.80 103.64 104.10
GRCh 38/ hg38 80.62 85.54 91.80 - 96.00 103.03 103.49
  Positions given in megabasepair (Mbp)
acc. to cases marked as ***

clinical symptoms


body region signs and symptoms
 2p-cen-near
[%]
 2q-cen-near
[%]
colon situs inversus 0 6
feet club foot 0 6
gentalia (male) cryptorchidism (male) 0 6
growth growth retardation (prenatal and/or postnatal) 33 24
hands hands in flexion 0 6
head - eyes blepharophimosis / ptosis 0 6
head - face cleft palate 0 24

epicanthus 0 6

facial dysmorphism (no details given, or others than listed; i.e. unspecific ones) 33 65

hypertelorism and / or telecanthus 0 6

nose long and/or bulbous 0 6

retrognathia 0 6
head - skull/ brain microcephaly 0 18

skull - other malformations 0 6

ventriculomegaly 0 6
heart artrial septal defect (ASD) 0 6

ventricular septal defect (VSD) 0 12
kidney duplication 0 6

problems/ malformations 33 6
mental attention deficit disorder 33 6

autism 0 12

developmental delay 67 35

mental retardation 67 24

no speech 33 6
muscles hypotonia 0 12
neuronal seizures 0 12
prenatal omphalocoele 0 6

pregnancy loss or termination of pregnance 0 12
skin hyperpigmentation / streaky pigmentation 33 0





cases included 3 17