TSitologiya i Genetika 2016, vol. 50, no. 4, 74-78
Cytology and Genetics 2016, vol. 50, no. 5, 339–342, doi: https://www.doi.org/10.3103/S009545271605011X

A case of prenatal detection of a de novo unbalanced complex chromosomal rearrangement involving four chromosomes

Pylyp L.Y., Mykytenko D.O., Spinenko L.O., Lavrova K.V., Verhoglyad N.V., Zukin V.D.

Clinic of Reproductive Medicine «Nadiya», Kyiv, Ukraine

Complex chromosomal rearrangements are rarely observed prenatally. Genetic counceling of CCR carriers is complicated, especially in cases of de novo origin of the rearrangement. Here we present a new case of a de novo CCR involving four chromosomes observed in amniotic fluid cells of the fetus at 17 weeks of gestation. The rearrangement was characterized as an apparently balanced four-way translocation t(1;11;7;13)(~p21;~q13.5;~q32;~q22)dn by conventional cytogenetic studies. However, array-based comparative genomic hybridization revealed 5 submicroscopic heterozygous interstitial deletions on chromosome 1, 11, 7, 13 with a total loss of 21.1 Mb of genetic material in regions close to those, designated as breakpoints by conventional cytogenetic analysis. The described case clearly illustrates that high-resolution molecular genetic analysis should be combined with conventional cytogenetic techniques to exclude subtle chromosomal abnormalities in CCR cases detected prenatally.

Keywords: complex chromosomal rearrangement, prenatal diagnosis, unbalanced karyotype

TSitologiya i Genetika
2016, vol. 50, no. 4, 74-78

Current Issue
Cytology and Genetics
2016, vol. 50, no. 5, 339–342,
doi: 10.3103/S009545271605011X

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