A unique case of a discontinuous duplication 3q26.1-3q28 resulting from a segregation error of a maternal complex chromosomal rearrangement involving an insertion and an inversion.

@article{Rodrguez2014AUC,
  title={A unique case of a discontinuous duplication 3q26.1-3q28 resulting from a segregation error of a maternal complex chromosomal rearrangement involving an insertion and an inversion.},
  author={Laura Rodr{\'i}guez and Samarth S. Bhatt and M{\'o}nica Garc{\'i}a-Castro and Ana Casado Plasencia and Joaqu{\'i}n Fern{\'a}ndez-Toral and Elena Bosch Abarca and Marcelo de Bello Cioffi and Thomas Liehr},
  journal={Gene},
  year={2014},
  volume={535 2},
  pages={
          165-9
        }
}
Until now, few cases of partial trisomy of 3q due to segregation error of parental balanced translocation and segregation of a duplicated deficient product resulting from parental pericentric inversion have been reported so far. Only five cases of chromosomal insertion malsegregation involving 3q region are available yet, thus making it relatively rare. In this case report, we are presenting a unique case of discontinuous partial trisomy of 3q26.1-q28 region which resulted from a segregation… CONTINUE READING
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