A Rare Complex Structural Chromosomal Anomaly in Mosaic Due to the Instability of a Derivative Chromosome 18 in a Female Infertile Patient
Received Date: May 11, 2016 / Accepted Date: Jun 23, 2016 / Published Date: Jun 30, 2016
Mosaicism in association with derivative chromosomes is a well-known fact. Derivative chromosomes often tend to rearrange and/or be reduced in size during karyotype evolution, because of their instability. This can determine the disappearance of a derivative chromosome at least in the most frequently studied tissue, the peripheral blood.
We report on a case of a rare complex structural chromosomal abnormality in mosaic, in a female patient who was referred to us for infertility. Patient’s karyotype was performed twice: The first time two cell lines were detected (a 45 chromosomes and a 46 chromosomes cell line respectively) both with a derivative chromosome 18, resulting from a translocation between chromosome 18 and 21. Six months later, a second karyotype showed only the 45 chromosome cell line. FISH analysis and array-CGH, subsequently performed to better characterize this complex rearrangement, showed a partial deletion of the short and long arm of chromosome 21.
Keywords: Derivative chromosome; Translocation; Mosaicism; Infertility
Citation: Lauricella SA, Buse M, Cavani S, Cuttaia HC, Malacarne M, et al. (2016) A Rare Complex Structural Chromosomal Anomaly in Mosaic Due to the Instability of a Derivative Chromosome 18 in a Female Infertile Patient. J Down Syndr Chr Abnorm 2: 110. Doi: 10.4172/2472-1115.1000110
Copyright: © 2016 Lauricella SA, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited
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