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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.

 




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.

Key words: complex chromosomal rearrangement, prenatal diagnosis, unbalanced karyotype

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

Clinic of Reproductive Medicine «Nadiya», Kyiv, Ukraine

E-mail: l.pylyp ivf.com.ua

Pylyp L.Y., Mykytenko D.O., Spinenko L.O., Lavrova K.V., Verhoglyad N.V., Zukin V.D. A case of prenatal detection of a de novo unbalanced complex chromosomal rearrangement involving four chromosomes, Tsitol Genet., 2016, vol. 50, no. 4, pp. 74-78.

In "Cytology and Genetics":
L. Y. Pylyp, D. O. Mykytenko, L. O. Spinenko, K. V. Lavrova, N. V. Verhoglyad, V. D. Zukin A case of prenatal detection of a de novo unbalanced complex chromosomal rearrangement involving four chromosomes, Cytol Genet., 2016, vol. 50, no. 5, pp. 339–342
DOI: 10.3103/S009545271605011X


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