Table 1. Phenotype, karyotype and molecular characterization of the five cases with unbalanced translocations.

Case	Phenotype	Karyotype	Parental Origin	Chr 15 Breakpoint interval	Recipient chromosome Breakpoint interval
1	PWS	45, XX, der(5)t(5;15)(q35;q11.2),-15	Unknown	Del/Dup:26220595-26234595, within a LINE repeat. Dup/N:27106557-27108882	Chr5:180615093-180615701
2	PWS	45, XX, der(18)t(15;18)(q13;q23), -15[97]/45, X, der(X), t(X;15) (q28;q13),-15[3] *	De novo	22838840-22846406, within a 7.5 Kb cluster of Alu and LINE repeats	Chr18: no copy number changes detected at the breakpoints. ChrX: no copy number changes detected at the breakpoints.
3	PWS	45, XY, der(6)t(6;15)(p25.3;q13),-15	De novo	25941268-25941852, within the OCA2 gene	Chr6: no copy number changes detected at the breakpoints
4	AS	45, XX, der(9)t(9;15)(p24;q13),-15	Maternal	23579790–23580274, inside intron 1 of the ATP10A gene	Chr9:4074000-4086000
5	PWS	Mos46, XX, t(8;15)(p23.3;q14)[80]/45, XX, der(8)t(8;15)(p23.3;q14),-15[20]	De novo	30944015-30952913, in the 5′ upstream sequence of the FMN1 gene	Chr8: no copy number changes detected at the breakpoints

^*The minor cell line has been confirmed, by classical cytogenetics, in fibroblasts, with a similar mosaicism percentage (45, XX, der(15;18)(q13;q23)[83]-15/45, X, der (X;15)(q28;q13),-15[3]*).