ChromosOmics - Database

Icon by Leon Liehr                   

                                                  CHROMOSOME #19 -                                                 
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(19)mat UPD(19)pat UPD(19)mat or pat

the probably non-dosage sensitive pericentric region of chromosome 19

schematic

cytogenetic

depiction

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


















































p13.2 p13.1 cep

q13.1
q13.3



































































































































































































































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 17.50 26.70 - 30.20 43.88 unknown
GRCh 37/ hg19 unknown 17.64 24.40 - 28.60 39.19 unknown
GRCh 38/ hg38 unknown 17.53 24.20 - 28.10 38.70 unknown
  Positions given in megabasepair (Mbp)
acc. to cases marked as ***

clinical symptoms
   

body region signs and symptoms
19p-cen-near
[%]
19q-cen-near
[%]
growth growth retardation (prenatal and/or postnatal) 29 13

obesity 0 13

overgrowth (prenatal and/or postnatal) 0 25
head - eyes blepharophimosis / ptosis 14 0

strabism 0 13
head - face epicanthus 14 0

facial dysmorphism (no details given, or others than listed; i.e. unspecific ones) 43 50

hypertelorism and / or telecanthus 14 0

nose long and/or bulbous 0 13
head - skull/ brain microcephaly 0 13

plagiocephaly 14 0

ventriculomegaly 0 13
heart ventricular septal defect (VSD) 0 13
mental autism 0 13

developmental delay 86 88

mental retardation 57 25

no speech 0 13
muscles hypertonia 0 13

hypotonia 29 13
neuronal seizures 0 13
prenatal oligohydramnion 0 13





cases included 7 8