From: Chromosome 22q11.2 microdeletion in monozygotic twins with discordant phenotype and deletion size
Parameters | 22q11.2 one signal | 22q11.2 two signals | 22q11.2 three/four signals | Remarks* |
---|---|---|---|---|
Second Twin | Â | Â | Â | Â |
Uncultured Blood | 940 | 055 | 005 | 94% hemizygous deletion |
Cultured Blood | Â | Â | Â | Â |
Metaphase | 010 | 000 | 000 | 100% hemizygous deletion |
Interphase | 120 | 005 | 001 | 95% hemizygous deletion |
First Twin | Â | Â | Â | Â |
Uncultured Blood | 850 | 072 | 003 | 92% hemizygous deletion |
Cultured Blood | Â | Â | Â | Â |
Metaphase | 025 | 000 | 000 | 100% hemizygous deletion |
Interphase | 110 | 006 | 001 | 94% hemizygous deletion |
Buccal cells | 051 | 003 | 000 | 94.4% hemizygous deletion |
Urinary Cells | 025 | 002 | 000 | 92.6% hemizygous deletion |
Mother | Â | Â | Â | Â |
Cultured Blood | Â | Â | Â | Â |
Metaphase | 000 | 010 | 000 | Normal dizygous 22q11.2 locus |
Interphase | 007 | 500 | 002 | 98.2% normal dizygous |
Father | Â | Â | Â | Â |
Cultured Blood | Â | Â | Â | Â |
Metaphase | 000 | 010 | 000 | Normal dizygous 22q11.2 locus |
Interphase | 008 | 500 | 003 | 97.8% normal dizygous |