ChromosOmics - Database

Icon by Leon Liehr                   

                                                  -  CHROMOSOME #6 -                                                 
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(6)mat UPD(6)pat UPD(6)mat or pat

the probably non-dosage sensitive pericentric region of chromosome 6
schematic

cytogenetic

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

































p21 p12
cen
q12 q13 q14 q15 q16












































































































































































































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 unknown 48.74 58.40 - 63.40 72.38 72.44
GRCh 37/ hg19 unknown 48.63 58.70 - 63.30 72.32 72.38
GRCh 38/ hg38 48.94 48.66 58.50 - 62.60 71.61 71.17
  Positions given in megabasepair (Mbp)
acc. to cases marked as ***

clinical symptoms


body region signs and symptoms 6p-cen-near
[%]
 6q-cen-near
[%]
colon anal atresia 17 0
gentalia (male) cryptorchidism (male) 0 67

hypospadias (male) 0 33

testicles undescended (male)
33
growth growth retardation (prenatal and/or postnatal) 17 0

obesity 17 0

overgrowth (prenatal and/or postnatal) 0 33
head - eyes strabism 0 33
head - face epicanthus 17 0

facial dysmorphism (no details given, or others than listed; i.e. unspecific ones) 83 100

hypertelorism and / or telecanthus 0 33

micrognathia 33 0

nose long and/or bulbous 33 0
head - skull/ brain macrocephaly/ hydrocephalus 0 33

microcephaly 50 0

plagiocephaly 17 0

ventriculomegaly 17 0
heart ventricular septal defect (VSD) 0 33
mental attention deficit disorder 17 67

developmental delay 50 33

mental retardation 17 67
muscles hypertonia 17 0

hypotonia 17 33
skin hyperpigmentation / streaky pigmentation 17 0





cases included 6 3