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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
Positions
given in megabasepair (Mbp)
critical
region
p-armuncritical
region
p-armcentromere
uncritical
region
q-armcritical
region
q-arm
NCBI
36/ hg18
unknown
48.74
58.40 - 63.40
72.38
72.44
GRCh
37/ hg19
unknown
48.94
58.70 - 63.30
72.28
72.34
acc. to cases marked as
***
| 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 |