Table 2.

Summary of the molecular analyses performed

Test	Result
Karyotyping on leucocytes	46,XX[23]/46,XY[7]
FISH on buccal smear	CEPX×2[16/50]/CEPX,CEPY×1[34/50]
FISH on ovarian and testicular part of gonad, respectively	CEPX×2/CEPX,CEPY×1
Marker D18S51	4 alleles, 2 paternal and 2 maternal
Markers TPOX, D2S1338, D3S1358	extra paternal allele
Markers D5S818, D7S820	extra maternal allele
Marker amelogenin	higher signal
ABO blood grouping and phenotyping	O K– Jk(a)+/ AB K+ Jk(a)–
SNP array and targeted sequencing	aberrant distribution of B allele