ChromosOmics - Database

Icon by Leon Liehr                   

                                                  CHROMOSOME #4 -                                                 
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(4)mat UPD(4)pat UPD(4)mat or pat


the probably non-dosage sensitive pericentric region of chromosome 4

schematic

cytogenetic

depiction

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


































p15 p14 p13
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 39.80 44.03 48.70 - 52.40 63.50 unknown
GRCh 37/ hg19 40.12 44.33 48.20 - 52.70 63.82 unknown
GRCh 38/ hg38 40.12 44.33 48.20 - 51.80 62.95 unknown
  Positions given in megabasepair (Mbp)
acc. to cases marked as ***


clinical symptoms


body region signs and symptoms 4p-cen-near
[%]
4q-cen-near
[%]
fingers clinodactyly 0 14
growth growth retardation (prenatal and/or postnatal) 0 28

obesity 0 14

overgrowth (prenatal and/or postnatal) 0 14
head - face epicanthus 0 14

facial dysmorphism (no details given, or others than listed; i.e. unspecific ones) 0 71

hypertelorism and / or telecanthus 0 14
head - skull/ brain macrocephaly/ hydrocephalus 0 14

microcephaly 0 28
mental developmental delay 100 57

mental retardation 100 28

no speech 0 14
muscles hypotonia 0 14
prenatal pregnancy loss or termination of pregnance 0 14





cases included 1 7