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

                                                  CHROMOSOME #16 -                                                 
START

Specific PATIENTINFORMATION for sSMC(16) - part 1
Specific PATIENTINFORMATION for sSMC(16) - part 2


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(16)mat UPD(16)pat UPD(16)mat or pat

the probably non-dosage sensitive pericentric region of chromosome 16

schematic

cytogenetic

depiction





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




























p13 p12 p11.2 cen q11.2 q12 q13 q21 q22














































































































































































































nono 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 ? {55} 28.73 34.40 - 45.50 46.02 46.16
GRCh 37/ hg19 ? {55} 28.83 34.60 - 47.00 47.50 47.64
  Positions given in megabasepair (Mbp)
acc. to cases marked as ***

clinical symptoms

body region signs and symptoms 16p-cen-near
[%]
16q-cen-near
[%]
gentalia (male) cryptorchidism (male) 0 6
growth assymmetry (body or parts of) 14 0

growth retardation (prenatal and/or postnatal) 14 13

obesity 0 6
hands hands in flexion 0 6
head - eyes strabism 14 0
head - face cleft palate 14 0

epicanthus 14 0

facial dysmorphism (no details given, or others than listed; i.e. unspecific ones) 29 19

hypertelorism and / or telecanthus 14 0

retrognathia 0 6
head - skull/ brain microcephaly 14 6

ventriculomegaly 14 0
mental attention deficit disorder 0 25

autism 43 19

developmental delay 57 81

mental retardation 43 19

no speech 0 6
muscles ataxia 0 6

hypotonia 14 13
neuronal seizures 29 0
prenatal pregnancy loss or termination of pregnance 14 0





cases included 7 16