alexa A Rare Complex Structural Chromosomal Anomaly in Mosaic Due to the Instability of a Derivative Chromosome 18 in a Female Infertile Patient | OMICS International| Abstract

ISSN: 2472-1115

Journal of Down Syndrome & Chromosome Abnormalities

  • Case Report   
  • J Down Syndr Chr Abnorm 2016, Vol 2(2): 2
  • DOI: 10.4172/2472-1115.1000110

A Rare Complex Structural Chromosomal Anomaly in Mosaic Due to the Instability of a Derivative Chromosome 18 in a Female Infertile Patient

Salvatrice A Lauricella1, Martina Busè2*, Simona Cavani3, Helenia C Cuttaia1, Michela Malacarne3, Marcella V Mazara1, Mauro Pierluigi3 and Maria Piccione2
1Laboratory of Medical Cytogenetic, AOOR Villa Sofia-Cervello, Palermo, Italy
2Department of Sciences for Health Promotion and Mother and Child Care “Giuseppe D’Alessandro”, University of Palermo, Palermo, Italy
3S.C. Laboratory of Human Genetics, E.O. Galliera Hospital, Genova, Italy
*Corresponding Author : Martina Busè, Via Alfonso Giordano, 390127 Palermo (PA), Italy, Tel: 0039 091 23869601, Email: [email protected]

Received Date: May 11, 2016 / Accepted Date: Jun 23, 2016 / Published Date: Jun 30, 2016

Abstract

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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