Page 55 - ESHRE2019
P. 55
CPM from meiotic origin and uniparental disomy
Gamete Zygote
Mitosis Soma
Normal
2/3
Isodisomy
Heteodisomy
1/3
Uniparental disomy testing
• Chromosome 6 (paternal isodisomy: IUGR associated with macroglossia and transient neonatal diabetes),
• Chromosome 7 (maternal UPD: Silver-Russel syndrome; CFTR mutations),
• Chromosome 11 (paternal UPD : 20% Beckwith-Wiedemann syndrome),
• Chromosome 14 (paternal UPD),
• Chromosome 15 (Prader-Willi and Angelman syndromes),
• Chromosome 16 ?
50
PRECONGRESS COURSE 10 I VIENNA, AUSTRIA – 23 JUNE 2019 53
