ChromosOmics - Database

Icon by Leon Liehr                   

                                                  CHROMOSOME #8 -                                                 
START

 Specific PATIENTINFORMATION for sSMC(8) - part 1
Specific PATIENTINFORMATION for sSMC(8) - part 2

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(8)mat UPD(8)pat UPD(8)mat or pat

the probably non-dosage sensitive pericentric region of chromosome 8

schematic

cytogenetic

depiction

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














































p22 p21 p12 p11.2 cen q11.2 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 40.35 40.87 43.20 - 48.10 61.33 unknown
GRCh 37/ hg19 40.23 40.75 43.10 - 48.10 61.67 unknown
GRCh 38/ hg38 40.37 40.89 43.20 - 47.20
60.25 unknown
  Positions given in megabasepair (Mbp)
acc. to cases marked as ***

clinical symptoms

body region signs and symptoms 8p-cen-near
[%]
8q-cen-near
[%]
i(8p)
[%]
neo 8pter
[%]
bone skeletal abnormalities 0 0 60 0

skoliosis 8 0 0 0
feet club foot 0 18 0 0
fingers camptodactyly 0 0 0 17

clinodactyly 4 0 0 0

long 0 0 10 0

polydactyly 0 9 0 0
gentalia (female) amenorrhea 4 0 0 0
gentalia (male) hypospadias (male) 4 0 0 0

testicles undescended (male) 0 0 0 17
growth assymmetry (body or parts of) 8 0 10 0

growth retardation (prenatal and/or postnatal) 0 0 50 33

obesity 4 0 10 0

overgrowth (prenatal and/or postnatal) 16 27 0 0
head - eyes blepharophimosis / ptosis 4 9 0 0

strabism 4 0 0 0
head - face epicanthus 8 18 0 0

facial dysmorphism (no details given, or others than listed; i.e. unspecific ones) 42 73 20 17

hypertelorism and / or telecanthus 4 18 0 0

hypotelorism 0 0 10 0

micrognathia 4 0 0 0

nose long and/or bulbous 0 9 0 0

palate high arched 8 0 0 17
head - skull/ brain macrocephaly/ hydrocephalus 12 0 0 17

microcephaly 0 18 10 0

plagiocephaly 0 9 0 0

skull - other malformations 0 0 80 0

ventriculomegaly 0 0 50 0
heart artrial septal defect (ASD) 0 0 40 0

cardiomypathy hypertrophic 0 9 0 0

heart defect (not specified) 0 0 0 17

patent ductus arteriousus (PDA) 0 0 30 17

ventricular septal defect (VSD) 4 0 50 0
joints joints hyperextensible/-flexible 12 0 0 0
mental attention deficit disorder 16 0 0 33

autism 21 9 0 0

developmental delay 67 64 60 83

mental retardation 33 18 80 67
muscles hypertonia 0 0 0 17

hypotonia 8 27 50 0
neuronal seizures 4 0 10 0
prenatal omphalocoele 0 9 0 0

pregnancy loss or termination of pregnance 4 9 10 0

polyhydramnion 0 0 10 0
skin hirsutism 0 0 0 17







cases included 24 11 10 6