ChromosOmics - Database

Icon by Leon Liehr                   

                                                  -  CHROMOSOME #14 -                                                 
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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(14)mat UPD(14)pat UPD(14)mat or pat

the probably non-dosage sensitive pericentric region of chromosome 14
schematic

cytogenetic

depiction
het long (= q-) arm



































short (= p-) arm cen q11.2 q12 q13 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		 centromere uncritical
region
q-arm		 critical
region
q-arm
NCBI 36/ hg18 p-tel 19.10 20.24 20.17
GRCh 37/ hg19 p-tel 19.10 21.10 21.17
GRCh 38/ hg38 p-tel 18.20 20.63 20.70
  Positions given in megabasepair (Mbp)
acc. to cases marked as ***

clinical symptoms

body region signs and symptoms
 14q-cen-near
[%]
bone skoliosis 6
feet feet other abnormalities 11
fingers camptodactyly 17

clinodactyly 11

long 6

short 6
gentalia (male) hypogonadotopic hypogonadism (male) 17

testicles undescended (male) 6
growth assymmetry (body or parts of) 6

growth retardation (prenatal and/or postnatal) 39
head - eyes blepharophimosis / ptosis 22

blindness 6

coloboma 11

strabism 33
head - face cleft palate 17

epicanthus 11

facial dysmorphism (no details given, or others than listed; i.e. unspecific ones) 83

hearing loss / problems 11

hypotelorism 22

micrognathia 6

retrognathia 6
head - skull/ brain microcephaly 55

skull - other malformations 17

ventriculomegaly 11
heart heart defect (not specified) 6
kidney problems/ malformations 6
mental developmental delay 33

mental retardation 50
muscles hypotonia 17
neuronal seizures 11
prenatal oligohydramnion 6

omphalocoele 6

pregnancy loss or termination of pregnance 17

polyhydramnion 6




cases included 18