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(21)mat

UPD(21)pat

UPD(21)mat or pat

the probably non-dosage sensitive pericentric region of chromosome 21
schematic cytogenetic depiction	het long (= q-) arm short (= p-) arm cen q21 q22 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 centromere uncritical region q-arm critical region q-arm NCBI 36/ hg18 p-tel 13.20 17.81 18.10 GRCh 37/ hg19 p-tel 14.30 18.89 19.18 GRCh 38/ hg38 p-tel 13.00 17.52 17.81   Positions given in megabasepair (Mbp) acc. to cases marked as ***