ChromosOmics - Database

Icon by Leon Liehr                   

                                                  CHROMOSOME #15 -                                                 
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(15)mat UPD(15)pat UPD(15)mat or pat

the probably non-dosage sensitive pericentric region of chromosome 15

schematic

cytogenetic

depiction

het long (= q-) arm

































short (= p-) arm
cen
q11.2

q13.1

q13.3

q15.1






















































































































































































































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
centromere uncritical
region
q-arm
critical
region
q-arm
NCBI 36/ hg18 p-tel 18.40 22.09 22.80
GRCh 37/ hg19 p-tel 20.70 24.54
(see below --)
25.25
GRCh 38/ hg38 p-tel 20.50 24.29 25.00
  Positions given in megabasepair (Mbp)
acc. to cases marked as ***

-- see here - in direct dup cases 28.11Mb reported!

clinical symptoms

body region signs and symptoms 15q12-cen-near (3x)
[%]
15q12-cen-near (4x)
[%]
15q14-cen-near (3x)
[%]
15q14-cen-near (4x)
[%]
15q14-cen-near (6x)
[%]
neo 15qter
[%]
bone skeletal abnormalities 0 0 0 0 0 4

skoliosis 0 0 0 0 0 13
fingers camptodactyly 0 0 0 0 0 9

clinodactyly 0 0 14 0 0 4

long 0 0 0 0 0 17

polydactyly 0 0 0 0 9 0

short 0 0 14 0 0 0
gentalia (female) amenorrhea 0 1 0 0 0 0
gentalia (male) cryptorchidism (male) 0 4 0 0 0 0

testicles undescended (male) 0 0 0 0 0 4
growth assymmetry (body or parts of) 0 0 0 0 0 22

growth retardation (prenatal and/or postnatal) 20 2 14 2 27 4

obesity 0 0 0 1 0 0

overgrowth (prenatal and/or postnatal) 0 0 0 0 0 30
head - eyes strabism 0 1 0 1 9 9
head - face cleft palate 0 0 0 0 9 0

epicanthus 0 5 14 0 0 17

facial dysmorphism (no details given, or others than listed; i.e. unspecific ones) 40 17 14 4 36 78

hearing loss / problems 0 0 0 0 0 22

hypertelorism and / or telecanthus 0 1 0 0 0 0

micrognathia 0 0 0 0 0 26

nose short and/or broad 0 0 0 1 0 0

palate high arched 20 0 0 0 0 13

retrognathia 0 0 0 0 0 13
head - skull/ brain macrocephaly/ hydrocephalus 0 1 0 0 0 4

microcephaly 0 0 29 1 18 4

skull - other malformations 0 0 14 0 9 0
heart artrial septal defect (ASD) 20 0 14 0 0 4

heart defect (Fallot tetralogy) 0 1 0 0 0 0

heart defect (not specified) 0 0 0 1 18 9

patent ductus arteriousus (PDA) 0 0 0 0 0 4

ventricular septal defect (VSD) 0 0 14 0 0 4
kidney problems/ malformations 20 0 0 0 0 9
mental attention deficit disorder 0 1 0 0 0 0

autism 0 1 14 56 0 0

behavioural problems 0 45 43 4 0 70

developmental delay 80 77 67 96 91 70

mental retardation 20 96 67 97 91 65

no speech 0 0 0 0 9 0
muscles hypotonia 20 8 0 4 36 17
neuronal seizures 0 11 14 30 72 4
prenatal breech position 0 0 0 0 0 4

pregnancy loss or termination of pregnance 0 1 0 0 0 9
skin hyperpigmentation / streaky pigmentation 0 0 0 3 0 0

hypomelanotic streaks 0 0 0 0 0 4









cases included 5 75 7 171 11 23