1. Supplementary figure S1: Identification of marker chromosome in patient 1 by FISH
47,XX,+mar B
47,XX,+13
47,XX,+mar
wcp13
wcp13
wcp13 C
47,XX,+13
47,XX,+mar
cep13,21
cep13,21

2. Supplementary figure S2: Genotype analysis of the three patients and their parents using SNPtrio and SNPduo A B
Patient 2
Mother of Patient 2
Identity
by State 2 1
Genotype BB AB AA NC
Chr 13
UPI-M
BPI
UPI-P
Log ratio
MI-S
MI-D 1 -1
hUPD-M
iUPD –M
Chr 13 C
Patient 3
Father of patient 3
Identity
by State 2 1
Genotype BB AB NC AA
Chr 13
Identity
by State 2 1
Genotype BB NC AA AB
Father of patient 3
Patient 3
Chr X