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CHROMOSOME #10 -
START
| 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(10)mat | UPD(10)pat | UPD(10)mat or pat |
the
probably non-dosage sensitive
pericentric region of chromosome
10
schematic
cytogenetic
depiction
short (= p-) arm
het
long (= q-) arm
p14
p13
p12
p11.2
cen
q11.2
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
34.46
34.75
38.80 - 42.10
48.20
unknown
GRCh
37/ hg19
34.43
34.72
38.00 - 42.30
48.89
unknown
acc. to cases marked as
***
| body region | signs and symptoms | 10p-cen-near [%] |
10q-cen-near [%] |
| feet | club foot | 0 | 33 |
| gentalia (female) | amenorrhea | 18 | 0 |
| hypospadias (male) | 0 | 0 | |
| hypogonadotopic hypogonadism (male) | 0 | 0 | |
| testicles undescended (male) | 0 | 0 | |
| growth | growth retardation (prenatal and/or postnatal) | 36 | 33 |
| overgrowth (prenatal and/or postnatal) | 0 | 33 | |
| head - face | cleft palate | 18 | 0 |
| facial dysmorphism (no details given, or others than listed; i.e. unspecific ones) | 63 | 67 | |
| hypertelorism and / or telecanthus | 18 | 0 | |
| micrognathia | 9 | 0 | |
| head - skull/ brain | microcephaly | 9 | 0 |
| heart | artrial septal defect (ASD) | 9 | 33 |
| heart defect (Fallot tetralogy) | 9 | 0 | |
| ventricular septal defect (VSD) | 9 | 0 | |
| joints | joints hyperextensible/-flexible | 9 | 0 |
| kidney | horseshoe | 9 | 0 |
| problems/ malformations | 9 | 0 | |
| mental | attention deficit disorder | 9 | 0 |
| autism | 9 | 0 | |
| developmental delay | 18 | 33 | |
| mental retardation | 45 | 0 | |
| muscles | ataxia | 0 | 33 |
| hypotonia | 36 | 67 | |
| prenatal | oligohydramnion | 9 | 0 |
| cases included | 11 | 3 |