Table 1 Molecular and cytogenetic characterization
From: Distinct mechanism of formation of the 48, XXYY karyotype
Patient | Father | Mother | |
|---|---|---|---|
KARYOTYPE | 48,XXYY | XYY (QF-PCR) | XX (QF-PCR) |
AMEL (Xp22.31-Xp22.1/Yp11.2) | XY | XY | X |
SRY (Yp11.31) | Present | Present | No |
X22 (Xq28Yq) | 199/225/241 bp(2:1:1) | 199/225 bp(2:1) | 220/241 bp |
DXS6854 (Xq26.1) | 110/110 bp | 110 bp | 106/110 bp |
XHPRT (X26.1) | 274/285 bp | 285 bp | 274/281 bp |
DXS6803 (Xq21.31) | 110/120 bp | 110 bp | 120/120 bp |
DXS8377 (Xq28) | 250/262 bp | 250 bp | 253/262 bp |
DXS6809 (Xq21.33) | 263/271 bp | 263 bp | 267/271 bp |
G10_STS47 (Yq11.222) | Present | Present | No |