ChromosOmics - Database

Icon by Leon Liehr                   

                                                  -  CHROMOSOME #17 -                                                 
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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(17)mat UPD(17)pat UPD(17)mat or pat

the probably non-dosage sensitive pericentric region of chromosome 17
schematic

cytogenetic

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
















































p13 p12 p11.2 cen
 q11.2
q21




































































































































































































































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 17.75 18.68 22.10 - 23.20 23.32 24.75
GRCh 37/ hg19 17.81 18.74 22.20 - 25.80 26.30 27.73
GRCh 38/ hg38 17.91 18.84
 22.70 - 27.40 27.97 29.40
  Positions given in megabasepair (Mbp)
acc. to cases marked as ***

clinical symptoms

body region signs and symptoms 17p-cen-near
[%]
 17q-cen-near
[%]
bone skoliosis 10 11
colon anus anteriorly placed 10 0
feet club foot 10 0

feet other abnormalities 0 11
fingers clinodactyly 10 0

long 10 0
growth assymmetry (body or parts of) 10 0

growth retardation (prenatal and/or postnatal) 10 44

overgrowth (prenatal and/or postnatal) 10 0
head - eyes blindness 0 11
head - face facial dysmorphism (no details given, or others than listed; i.e. unspecific ones) 60 44

micrognathia 10 11

nose long and/or bulbous 10 0

palate high arched 20 0
head - skull/ brain dolichocephaly 10 11

macrocephaly/ hydrocephalus 10 0

microcephaly 10 22
heart ventricular septal defect (VSD) 10 11
joints joints hyperextensible/-flexible 20 0
mental attention deficit disorder 0 33

developmental delay 90 77

mental retardation 20 33

no speech 0 33
muscles hypertonia 0 11

hypotonia 50 33
neuronal seizures 20 0
prenatal pregnancy loss or termination of pregnance 10 0





cases included 10 9