ChromosOmics - Database

Icon by Leon Liehr                   

                                                  CHROMOSOME #11 -                                                 
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(11)mat UPD(11)pat UPD(11)mat or pat

the probably non-dosage sensitive pericentric region of chromosome 11

schematic

cytogenetic

depiction

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











































p14 p13 p12 p11 cen q12 q13

























































































































































































































































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 42.88 48.26 51.40 - 56.40 60.23 78.05
GRCh 37/ hg19 42.92 48.30 51.60 - 55.70 60.47 79.07
GRCh 38/ hg38 42.90 48.28 51.00 - 53.40 60.71 79.36
  Positions given in megabasepair (Mbp)
acc. to cases marked as ***
Acc. to {47} triplosensitive regions start between postions (hg19) of 45,048,321 to 47,675,469 and 60,516,539 to 61,479,322, respectively

clinical symptoms - see Ref {47}

body region signs and symptoms 11p-cen-near
11q-cen-near
growth growth retardation (prenatal and/or postnatal) 1 1
head - eyes blepharophimosis / ptosis 0 1

strabism 0 1
head - face cleft palate 1 0

facial dysmorphism (no details given, or others than listed; i.e. unspecific ones) 3 4
heart heart defect (not specified) 0 2
mental developmental delay 5 4

mental retardation 1 1
muscles hypotonia 1 1





cases included 5 4