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CHROMOSOME #9 -
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(9)mat | UPD(9)pat | UPD(9)mat or pat |
the
probably non-dosage sensitive
pericentric region of chromosome
9
schematic
cytogenetic
depiction
short
(= p-) arm
heterochromatin
long
(= q-) arm
p22
p21
p13
p11.2
cen
q12
q13
q21
q22
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
37.88++
42.96
46.70 - 70.00
70.50
unknown
GRCh
37/ hg19
37.88++
42.96
47.30 - 65.90
71.40
unknown
acc. to cases marked as
***
++position
only based on one case;
aCGH-data not that certain
| body region | signs and symptoms | 9p-cen-near [%] |
9q-cen-near [%] |
i(9p) [%] |
| bone | skeletal abnormalities | 0 | 0 | 28 |
| fingers | camptodactyly | 0 | 0 | 26 |
| clinodactyly | 50 | 0 | 26 | |
| growth | growth retardation (prenatal and/or postnatal) | 0 | 100 | 31 |
| head - eyes | strabism | 0 | 0 | 23 |
| head - face | cleft palate | 0 | 0 | 32 |
| epicanthus | 0 | 0 | 23 | |
| facial dysmorphism (no details given, or others than listed; i.e. unspecific ones) | 0 | 0 | 71 | |
| hypertelorism and / or telecanthus | 0 | 0 | 46 | |
| micrognathia | 0 | 0 | 45 | |
| retrognathia | 0 | 0 | 45 | |
| head - skull/ brain | microcephaly | 0 | 0 | 20 |
| heart | heart defect (not specified) | 0 | 0 | 37 |
| kidney | problems/ malformations | 0 | 0 | 43 |
| mental | attention deficit disorder | 50 | 0 | 0 |
| autism | 50 | 0 | 0 | |
| developmental delay | 0 | 0 | 45 | |
| mental retardation | 50 | 0 | 29 | |
| cases included | 2 | 1 | 65 |