Table 1 Details of FISH results of cases and their parents
From: Mosaic 22q11.2 microdeletion syndrome: diagnosis and clinical manifestations of two cases
Parameters | One Signal (%) | Two Signals (%) | Other Signals (%) | Total Cells | Remarks |
|---|---|---|---|---|---|
Patient 1 | Â | Â | Â | Â | Â |
Blood Interphase | 1100 (83.8) | 0210 (16) | 0002 (0.2) | 1312 | 16% normal cells |
Blood Metaphase | 0024 | 0001 | 0000 | 0025 | One normal cell (4%) |
Buccal Cells | 0014 (77.8) | 0004 (22.2) | 0000 | 0018 | 22.2% normal cells |
Urinary Cells | 0008 (88.9) | 0001 (11.1) | 0000 | 0009 | 11.1% normal cells |
Mother's Blood (interphase) | 0000 | 0100 | 0000 | 100 | Normal |
Father's Blood (interphase) | 0001 | 0081 | 0001 | 0083 | Normal |
Patient 2 | Â | Â | Â | Â | Â |
Blood Interphase | 121 (11.6) | 925 (88.4) | 000 | 1046 | 88.4% normal cells |
Blood Metaphase | 006 (15) | 034 (85) | 000 | 040 | 85% normal cells |
Buccal Cells | 008 (13.8) | 050 (86.2) | 000 | 058 | 86.2% normal cells |
Urinary Cells | 007 (14.6) | 041 (85.4) | 000 | 048 | 85.4% normal cells |
Mother's Blood (metaphase) | 000 | 030 | 000 | 030 | Normal |
Father's Blood (metaphase) | 000 | 020 | 000 | 020 | Normal |