Cytogenetic and clinical features in pedigree
| Family member . | Date . | Status . | GTG karyotype . | FISH interphase (chromosome 21) . |
|---|---|---|---|---|
| II:1 | Dec 1998 | 46,XY | No + 21 | |
| II:3 | Dec 1998 | 46,XX | BT | |
| II:4 | Aug 1996 | AML M1 | 92,XXYY, add(7)(q31), add(7)(q31)[14]/46,XY[10] | |
| Apr 1997 | After BMT | 46,XX | ||
| Nov 1997 | After BMT | |||
| Sep 1998 | Relapse/secondary leukemia? | 47,XX,+21[13]/47,XX,+8[7]/46,XX[4] | + 21 (37%) | |
| II:7 | Oct 1996 | Donor | 46,XX | |
| Oct 1998 | MDS | 46,XX | BT | |
| Feb 1999 | AML M1 | 46,XX | BT | |
| Apr 1999 | Before MUD | BT | ||
| Dec 1999 | After BMT | 46,XX | ||
| Feb 2001 | After BMT | 46,XX | BT | |
| II:8 | Nov 1998 | 46,XX | BT | |
| Mar 1999 | MDS? | 46,XX | No + 21 |
| Family member . | Date . | Status . | GTG karyotype . | FISH interphase (chromosome 21) . |
|---|---|---|---|---|
| II:1 | Dec 1998 | 46,XY | No + 21 | |
| II:3 | Dec 1998 | 46,XX | BT | |
| II:4 | Aug 1996 | AML M1 | 92,XXYY, add(7)(q31), add(7)(q31)[14]/46,XY[10] | |
| Apr 1997 | After BMT | 46,XX | ||
| Nov 1997 | After BMT | |||
| Sep 1998 | Relapse/secondary leukemia? | 47,XX,+21[13]/47,XX,+8[7]/46,XX[4] | + 21 (37%) | |
| II:7 | Oct 1996 | Donor | 46,XX | |
| Oct 1998 | MDS | 46,XX | BT | |
| Feb 1999 | AML M1 | 46,XX | BT | |
| Apr 1999 | Before MUD | BT | ||
| Dec 1999 | After BMT | 46,XX | ||
| Feb 2001 | After BMT | 46,XX | BT | |
| II:8 | Nov 1998 | 46,XX | BT | |
| Mar 1999 | MDS? | 46,XX | No + 21 |
Threshold of sensitivity for FISH is at 4% to 5%.
BT indicates below threshold; BMT, bone marrow transplantation.