Characteristics | Patient 1 | Patient 2 |
---|---|---|
Size of the deletion (Mb) | 1.41 | 1.67 |
Centromeric breakpoint (SNP nt position) | Â | Â |
 First hemizygous probe locus | 72360917 | 72229683 |
 Homology block in centromeric LCR | C | B |
 Effect | Intronic interruption of the FKBP6 gene | Intronic interruption of the transcription factor IIi, pseudogene 1 (GTF2IP1) |
Telomeric breakpoint (SNP nt position) | Â | Â |
 Last hemizygous probe locus | 73772847 | 73900557 |
 Homology block in medial LCR | B | B |
 Effect | Intronic interruption of the GTF2I gene | Intronic interruption of the GTF2IRD2 gene |