ChromosOmics - Database

Icon by Leon Liehr                   

                                                  CHROMOSOME #7 -                                                 
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(7)mat UPD(7)pat UPD(7)mat or pat

the probably non-dosage sensitive pericentric region of chromosome 7

schematic

cytogenetic

depiction

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




























p15 p14 p13 p12 p11.2



q11.2 q21.1















































































































































































































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 55.42 54.52 57.40 - 61.10 67.00 74.00
GRCh 37/ hg19 55.45 54.55 58.00 - 61.70 67.36 74.36
GRCh 38/ hg38 55.38 54.48 58.10 - 60.10 67.90 74.95
  Positions given in megabasepair (Mbp)
acc. to cases marked as ***

clinical symptoms

body region signs and symptoms
7p-cen-near
[%]
7q-cen-near
[%]
fingers short 0 20
growth growth retardation (prenatal and/or postnatal) 67 0

obesity 0 40

overgrowth (prenatal and/or postnatal) 0 30
hands hands with simian crease 0 10
head - eyes blepharophimosis / ptosis 0 10

strabism 0 10
head - face cleft palate 0 10

epicanthus 0 30

facial dysmorphism (no details given, or others than listed; i.e. unspecific ones) 67 90

hypertelorism and / or telecanthus 0 10

micrognathia 0 20

nose short and/or broad 0 30

palate high arched 0 10
head - skull/ brain macrocephaly/ hydrocephalus 33 30

ventriculomegaly 0 20
heart artrial septal defect (ASD) 0 10
mental attention deficit disorder 0 20

autism 0 10

developmental delay 33 100

mental retardation 67 60
muscles hypotonia 0 20
skin hirsutism 0 10





cases included 3 10