Specific PATIENTINFORMATION for sSMC(12)

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(12)mat

UPD(12)pat

UPD(12)mat or pat

the probably non-dosage sensitive pericentric region of chromosome 12
schematic cytogenetic depiction	short (= p-) arm het long (= q-) arm p13 p12 p11 cen q12 q13 q14 * no clinical signs clinical signs * acc. to GTG-data
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 28.47 33.20 - 36.50 39.90 40.20 GRCh 37/ hg19 unknown 28.58 33.30 - 38.20 41.91 42.00 GRCh 38/ hg38 unknown 28.43 33.20 - 37.80 41.22 41.52   Positions given in megabasepair (Mbp) acc. to cases marked as ***