ChromosOmics - Database

Icon by Leon Liehr                   


                                                  CHROMOSOME #5 -                                                 
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(5)mat UPD(5)pat UPD(5)mat or pat

the probably non-dosage sensitive pericentric region of chromosome 5

schematic

cytogenetic

depiction

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




























p15 p14 p13 p12 cen q11.2 q12 q13 q14






































































































































































































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 30.64 37.21 45.80 - 50.50 56.04 61.21
GRCh 37/ hg19 30.60 37.17 46.10 - 50.70 56.00 61.17
GRCh 38/ hg38 30.60 37.17 46.10 - 51.40 56.70 61.88
  Positions given in megabasepair (Mbp)
acc. to cases marked as ***

clinical symptoms


body region signs and symptoms 5p-cen-near
[%]
5q-cen-near
[%]
i(5p)
[%]
bone skoliosis 8 0 0
feet club foot 8 0 60

feet other abnormalities 16 0 0
fingers clinodactyly 0 0 20

long 16 0 0
growth assymmetry (body or parts of) 8 0 0

growth retardation (prenatal and/or postnatal) 25 33 0

obesity 8 0 0

overgrowth (prenatal and/or postnatal) 8 0 0
head - eyes strabism 25 0 0
head - face cleft palate 0 0 10

epicanthus 41 0 30

facial dysmorphism (no details given, or others than listed; i.e. unspecific ones) 67 67 100

hypertelorism and / or telecanthus 33 0 40

hypotelorism 0 33 0

micrognathia 0 0 50

nose long and/or bulbous 8 0 0

nose short and/or broad 16 0 0

palate high arched 0 0 10

retrognathia 8 0 50
head - skull/ brain dolichocephaly 8 0 30

macrocephaly/ hydrocephalus 33 0 70

microcephaly 16 0 0

pits preauricular 0 0 20

ventriculomegaly 0 0 60
heart artrial septal defect (ASD) 8 0 0

heart defect (not specified) 8 0 10

ventricular septal defect (VSD) 33 0 0
mental attention deficit disorder 8 0 0

autism 8 0 0

developmental delay 33 100 60

mental retardation 41 0 70
muscles hypotonia 41 33 70
neuronal seizures 8 0 70
prenatal oligohydramnion 0 0 10

omphalocoele 0 0 10

pregnancy loss or termination of pregnance 8 0 10

polyhydramnion 16 0 0
skin hirsutism 0 0 0

hyperpigmentation / streaky pigmentation 8 0 40






cases included 12 3 10