Table 4.
Pedigree analyses of 38 families with chromosomal heteromorphisms
| Family No. | Karyotypes | Proband’s clinical manifestation | Family No. | Karyotypes | Proband’s clinical manifestation | ||
|---|---|---|---|---|---|---|---|
| 1 | P | 46,XX,13pstk+ | Group B | 2 | P | 46,XX,21pstk+ | Group B |
| F | 46,XY | F | 46,XY | ||||
| M | 46,XX,13pstk+ | M | 46,XX,21pstk+ | ||||
| B | 46,XY,13pstk+ | B | 46,XY,21pstk+ | ||||
| H | 46,XY | H | 46,XY | ||||
| 3 | P | 46,XX,15pstk+ | Group B | 4 | P | 46,XY,22pstk+ | Group A |
| F | 46,XY | F | 46,XY,22pstk+ | ||||
| M | 46,XX,15pstk+ | M | 46,XX | ||||
| H | 46,XY | W | 46,XX | ||||
| 5 | P | 46,XY,21pstk- | Group A | 6 | P | 46,XX,21pstk+ | Group B |
| F | 46,XY,21pstk- | F | ND | ||||
| M | 46,XX | M | 46,XX,21pstk+ | ||||
| B | 46,XY,21pstk- | H | 46,XY | ||||
| W | 46,XX | 8–12 | P | 46,XY,inv(9)(p11q12) | 8–10: Group B | ||
| 7 | P | 46,XY,inv(9)(p11q12) | Group A | F | 46,XY | 11–12: Group A | |
| F | 46,XY,inv(9)(p11q12) | M | 46,XX,inv(9)(p11q12) | ||||
| M | 46,XX | W | 46,XX | ||||
| B | 46,XY,inv(9)(p11q12) | 15 | P | 46,XY,inv(9)(p11q12) | Group A | ||
| W | 46,XX | F | 46,XY | ||||
| 13–14 | P | 46,XY,inv(9)(p11q12) | 13: Group B 14: Group A | M | 46,XX,inv(9)(p11q12) | ||
| F | 46,XY,inv(9)(p11q12) | S | 46,XX,inv(9)(p11q12) | ||||
| M | 46,XX | W | 46,XX | ||||
| S | 46,XX,inv(9)(p11q12) | 17 | P | 46,XX,1qh+ | Group B | ||
| W | 46,XX | F | 46,XY | ||||
| 16 | P | 46,XX,1qh+ | Group A | M | 46,XX,1qh+ | ||
| F | ND | B | 46,XY,1qh+ | ||||
| M | 46,XX,1qh+ | H | 46,XY | ||||
| H | 46,XY | 19 | P | 46,XY,9qh+ | Group B | ||
| 18 | P | 46,XY,9qh+ | Group A | F | 46,XY | ||
| F | 46,XY,9qh+ | M | 46,XX,9qh+ | ||||
| M | 46,XX | W | 46,XX | ||||
| W | 46,XX | 21 | P | 46,XY,16qh+ | Group A | ||
| 20 | P | 46,XX,16qh+ | Group B | F | 46,XY,22pstk+ | ||
| F | 46,XY | M | 46,XX,16qh+ | ||||
| M | 46,XX,16qh+ | S | 46,XX,16qh+ | ||||
| B | 46,XY | W | 46,XX | ||||
| S1 | 46,XX | 23–24 | P | 46,XY,Yqh+ | 23: Group A | ||
| S2 | 46,XX,16qh+ | F | 46,XY,Yqh+ | 24: Group C | |||
| H | 46,XY | M | ND | ||||
| 22 | P | 46,XY,Yqh+ | Group C | W | 46,XX | ||
| F | 46,XY,Yqh+ | 26–36 | P | 46,XY,Yqh- | 26–28: Group A | ||
| M | ND | F | 46,XY,Yqh- | 29–30: Group B | |||
| W | 46,XX,inv(2)(q21q32) | M | ND | 31–36*: Group A | |||
| W | 46,XX | ||||||
| 25 | P | 46,XY,Yqh+ | Group A | 37–38 | P | 46,XY,Yqh- | Group A |
| F | 46,XY,Yqh+ | F | 46,XY,Yqh- | ||||
| M | ND | M | ND | ||||
| B | 46,XY,Yqh+ | B | 46,XY,Yqh- | ||||
| W | 46,XX | W | 46,XX |