ChromosOmics - Database
tl_files/tiny_templates/Bilder TL/sSMC-book.jpg tl_files/tiny_templates/Bilder TL/hetmorh-book.jpg

                                                  -  CHROMOSOME #12 -                                                 
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Specific PATIENTINFORMATION for sSMC(12)

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(12)mat UPD(12)pat UPD(12)mat or pat

the probably non-dosage sensitive pericentric region of chromosome 12
schematic

cytogenetic

depiction



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









































p13 p12 p11 cen q12 q13 q14
























































































































































































































no clinical
signs


























































































clinical
signs






















































schematic

molecular-

cytogenetic

depiction


critical
region
p-arm		 uncritical
region
p-arm		 centromere uncritical
region
q-arm		 critical
region
q-arm
NCBI 36/ hg18 unknown 28.47 33.20 - 36.50 39.90 40.20
GRCh 37/ hg19 unknown 28.57 33.30 - 38.20 41.65 42.00
  Positions given in megabasepair (Mbp)
acc. to cases marked as ***

clinical symptoms

body region signs and symptoms
 12p-cen-near
[%]
 12q-cen-near
[%]
 i(12p)
[%]
fingers long 0 33 0
growth growth retardation (prenatal and/or postnatal) 25 33 0

obesity 25 0 0

overgrowth (prenatal and/or postnatal) 0 0 31
head - eyes nystagmus 50 0 0

strabism 25 0 0
head - face cleft palate 0 0 6

epicanthus 0 0 47

facial dysmorphism (no details given, or others than listed; i.e. unspecific ones) 75 100 100

hearing loss / problems 0 0 14

hypertelorism and / or telecanthus 0 0 94

macroglossia 0 0 35

retrognathia 0 33 0
head - skull/ brain microcephaly 25 33 0

plagiocephaly 50 0 0
heart artrial septal defect (ASD) 25 33 0

cardiomegalie 25 0 0

heart defect (not specified) 25 0 0
mental autism 0 33 0

developmental delay 50 100 100

mental retardation 25 67 100
muscles hypotonia 50 0 100
neuronal seizures 0 0 59
skin hyperpigmentation / streaky pigmentation 0 0 26

hypomelanotic streaks 0 0 26






cases included 4 3 51