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

                                                  -  CHROMOSOME #4 -                                                 
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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(4)mat UPD(4)pat UPD(4)mat or pat


the probably non-dosage sensitive pericentric region of chromosome 4
schematic

cytogenetic

depiction



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


































p15 p14 p13
cen q12 q13 q21














































































































































































































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 39.80 44.03 48.70 - 52.40 63.50 unknown
GRCh 37/ hg19 40.10 44.13 48.20 - 52.70 63.70 unknown
  Positions given in megabasepair (Mbp)
acc. to cases marked as ***


clinical symptoms


body region signs and symptoms 4p-cen-near
[%]
 4q-cen-near
[%]
fingers clinodactyly 0 14
growth growth retardation (prenatal and/or postnatal) 0 28

obesity 0 14

overgrowth (prenatal and/or postnatal) 0 14
head - face epicanthus 0 14

facial dysmorphism (no details given, or others than listed; i.e. unspecific ones) 0 71

hypertelorism and / or telecanthus 0 14
head - skull/ brain macrocephaly/ hydrocephalus 0 14

microcephaly 0 28
mental developmental delay 100 57

mental retardation 100 28

no speech 0 14
muscles hypotonia 0 14
prenatal pregnancy loss or termination of pregnance 0 14





cases included 1 7