ChromosOmics - Database

Icon by Leon Liehr                   

                                                  CHROMOSOME #9 -                                                 
START


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(9)mat UPD(9)pat UPD(9)mat or pat

the probably non-dosage sensitive pericentric region of chromosome 9

schematic

cytogenetic

depiction

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





























p22 p21
p13
p11.2 cen q12 q13 q21 q22





































































































































































































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 37.88++ 42.96 46.70 - 70.00 70.50 unknown
GRCh 37/ hg19 37.89++ 42.97 47.30 - 65.90 71.31 unknown
GRCh 38/ hg38 37.88++ 40.47 42.20 - 61.50 68.70 unknown
  Positions given in megabasepair (Mbp)
acc. to cases marked as ***
++position only based on one case; aCGH-data not that certain

clinical symptoms

body region signs and symptoms 9p-cen-near
[%]
9q-cen-near
[%]
i(9p)
[%]
bone skeletal abnormalities 0 0 28
fingers camptodactyly 0 0 26

clinodactyly 50 0 26
growth growth retardation (prenatal and/or postnatal) 0 100 31
head - eyes strabism 0 0 23
head - face cleft palate 0 0 32

epicanthus 0 0 23

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

hypertelorism and / or telecanthus 0 0 46

micrognathia 0 0 45

retrognathia 0 0 45
head - skull/ brain microcephaly 0 0 20
heart heart defect (not specified) 0 0 37
kidney problems/ malformations 0 0 43
mental attention deficit disorder 50 0 0

autism 50 0 0

developmental delay 0 0 45

mental retardation 50 0 29






cases included 2 1 65