TL

clinical symptoms

Cases without clinical findings	15	Similar imbalances – no sSMC	0
Cases with clinical findings	31	Similar imbalances – no sSMC	4
Cases with isochromosome 20p			4
Cases without clear clinical correlation	11	Cases with discontinous sSMC	1
Cases with complex sSMC	0	Cases with UPD and sSMC	3
Cases (sSMC) with neocentromeres	1	Similar imbalances - no sSMC	>20
Tumor	0	DISCLAIMER
References

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(20)mat

UPD(20)pat

UPD(20)mat or pat

the probably non-dosage sensitive pericentric region of chromosome 20

schematic

cytogenetic

depiction

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

p12 p11.2 cen q11.2 q12 q13

no clinical
signs

clinical
signs

schematic

molecular-

cytogenetic

depiction

Data is converted between genome versions by UCSC browser!
Note the changes defined there for centromere-sizes; due to that and due to 'new insertions and deletions', positions are not always seeming logical comparing different versions listed

genomic version critical
region
p-arm uncritical
region
p-arm centromere uncritical
region
q-arm critical
region
q-arm

NCBI 36/ hg18 unknown 14.90 25.70 - 28.40 29.93 30.12

GRCh 37/ hg19 unknown 14.95 25.60 - 29.40 30.47 30.66

GRCh 38/ hg38 unknown 14.97 25.70 - 30.40 31.88
32.07

Positions given in megabasepair (Mbp)
acc. to cases marked as ***