From: Chromosome 22q11.2 microdeletion in monozygotic twins with discordant phenotype and deletion size
Positive Findings | First Twin (Milder) | Second Twin (Severe) | Remarks |
---|---|---|---|
Chromosome 8 | Gain | Gain | 8p subtelomeric region |
Locus | p23.3-p23.2 | p23.3-p23.2 | First twin had larger size of gain (4880 bp) |
Start | 2190549 | 2190549 | No differences in numbers of genes |
End | 2480256 | 2475376 | Â |
Size (~0.3 MB) | 0289707 | 0284827 | Â |
Value | 3 | 3 | Â |
CNV Index | 0 | 0 | Â |
Number of Markers | 33 | 32 | Â |
Genes | 0 | 0 | Â |
Chromosome 14 | Gain | Gain | 14q pericentromeric region |
Locus | q11.2 | q11.2 | Identical gain size |
Start | 19283777 | 19283777 | No differences in numbers of genes |
End | 19494891 | 19494891 | Â |
Size ((~0.2 MB) | 00211114 | 00211114 | Â |
Value | 3 | 3 | Â |
CNV Index | 1 | 1 | Â |
Number of Markers | 14 | 14 | Â |
Genes | 6 | 6 | Â |
Chromosome 22 | Loss | Loss | DiGeorge syndrome 1 or Velocardiofacial |
Locus | q11.21 | q11.21 | syndrome |
Start | 17257787 | 17118296 | Second twin had large deletion |
End | 19792353 | 19792353 | (139491 bp; proximal deletion) |
Size (> 2.5 MB) | 2534566 | 2674057 | One gene more lost in second twin |
Value | 1 | 1 | (GGT3P) |
CNV Index | 2 | 2 | Â |
Number of Markers | 447 | 452 | Â |
Genes | 65* | 66# | Â |