ChromosOmics - Database

Icon by Leon Liehr                   

                                                  CHROMOSOME #3 -                                                 
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(3)mat UPD(3)pat UPD(3)mat or pat

the probably non-dosage sensitive pericentric region of chromosome 3

schematic

cytogenetic

depiction

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





































p21 p14 p13 p12
cen

q12 q13 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 unknown 74.67 89.40 - 93.20 104.78 unknown
GRCh 37/ hg19 unknown 74.58 87.90 - 93.90 103.30 unknown
GRCh 38/ hg38 unknown 74.54 87.80 - 94.00 103.58 unknown
  Positions given in megabasepair (Mbp)
acc. to cases marked as ***

clinical symptoms

body region signs and symptoms 3p-cen-near
[%]
3q-cen-near
[%]
bone skoliosis 50 0
fingers clinodactyly 100 0
gentalia (male) hypospadias (male) 50 0
growth growth retardation (prenatal and/or postnatal) 50 100
hands hands with simian crease 50 0
head - eyes blepharophimosis / ptosis 50 0
head - face facial dysmorphism (no details given, or others than listed; i.e. unspecific ones) 100 0

hypertelorism and / or telecanthus 50 0
head - skull/ brain skull - other malformations 50 0
heart patent ductus arteriousus (PDA) 50 0
mental developmental delay 100 100
muscles hypotonia 50 0





cases included 2 1