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Table 1 Summary of karyotypes, SNP array result, ultrasound findings and pregnancy outcome

From: Prenatal diagnosis of 7 cases with uniparental disomy by utilization of single nucleotide polymorphism array

Case No Specimen Mechanism Chromosome Type Segment Size (Mb) Mosaic% by SNP array Karyotype Origin Indication
1 UCB Monosomy rescue Chr1 Mosaic UPD p36.33q44 248.71 85 46,XX Mitosis Ventriculomegaly
2 AF Monosomy rescue Chr3 UPD p26.3q29 197.59 100 46,XX Mitosis Hyperechogenic bowel
3 UCB Monosomy rescue Chr14 UPD q11.2q32.33 86.49 100 46,XX Mitosis UMM
4 Villus Monosomy rescue Chr16 UPD p13.3q24.3 90.16 100 47,XX, +20 Mitosis IFD
nondisjunction Chr20 Trisomy p13q13.33 62.89 100 Meiosis
5 UCB Trisomy rescue Chr15 UPD q22.2q26.3 39.48 100 46,XX MI UMM
6 UCB Trisomy rescue Chr15 UPD q11.2q14 11.17 100 46,XY MII AMA
q21.1q23 18.64 100
7 AF Trisomy rescue Chr1 UPD p36.33p13.2 115.03 100 47,XX, + mar[53]/46,XX[22] MII High T 21 risk
UPD q21.1q44 104.37 100
DUP p13.2p11.2 5.39 100
  1. Results of seven cases of UPD
  2. UCB Umbilical Cord blood, AF amniotic fluid, MI meiosis I, MII meiosis II, UMM Ultrasound multiple malformations, IFD intrauterine fetal death, AMA advanced maternal age, T trisomy
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Molecular Cytogenetics

ISSN: 1755-8166

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