Artigos Científicos
Mosaicism for Genome-wide Paternal Uniparental Disomy - Two prenatal cases
30 agosto 2021
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Mosaicism for Genome-wide Paternal Uniparental Disomy - Two prenatal cases
R. Lemos1, C. Ventura1, F. Torres1, G. Fernandes1, I. Durães1, A. Pereira1, P. Costa1, J. Castro2, C. Brito2, Rita Cerqueira1
INTRODUCTION
Uniparental disomy (UPD) is the abnormal situation in which both members of a chromosome pair are inherited from one parent, and the other parent’s chromosome is missing.
UPD of the whole genome is not consistent with life but Genome-Wide UPD in mosaic might be compatible with life.
aCGH combine copy number and genotype information (SNPs), allowing, together with classical cytogenetics (karyotype and/or FISH), the diagnosis of triploidy cases and the detection of rare cases of Genome-wide Uniparental Disomy (UPD).
