alexa A Rare Complex Structural Chromosomal Anomaly in Mosaic Due to the Instability of a Derivative Chromosome 18 in a Female Infertile Patient
ISSN: 2472-1115

Journal of Down Syndrome & Chromosome Abnormalities
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Case Report

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)
Tel: 0039 091 23869601
E-mail: [email protected]

Received date: May 11, 2016; Accepted date: June 23, 2016; Published date: June 30, 2016

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

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.

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