DOUBLE ISOCHROMOSOME X, A RARE CYTOGENETIC VARIANT OF TURNER SYNDROME: A CASE REPORT AND A REVIEW OF THE LITERATURE
Zerrouki K.1,2, Babakhouya A.1,3, Tajir M.1,2
*Corresponding Author: Khawla Zerrouki; Address: Medical Genetics Laboratory, Mohammed VI University Hospital, BP 4806 Oujda University, 60049 Oujda, Morocco. Phone number: +212642540172; E-mail: khawlazerroukii@gmail.com
page: 4

INTRODUCTION

Turner Syndrome (TS) is a genetic disorder caused by total or partial loss of an X chromosome(1). Its first clinical description was in 1938 by Henry Turner and the chromosomal abnormality was found in 1956 by C.E Ford (2). This is the most common chromosomal abnormality in girls. It occurs in 1 in 2,500 live-born females (1,3). Phenotypical presentation is heterogeneous (4). A chromosomal analysis (karyotype) confirms the diagnosis and shows a total monosomy of the X chromosome (45,X) in about 50% of cases, or with other forms represented by mosaic formulas and structural anomalies of the X chromosome (deletions, ring, isochromosome). The isochromosome X (i(X)) is a known variant of TS, however, double i(X) is a very rare variant, reported very few times in the literature (5). We report on a rare case of TS with double i(X), and we review the literature regarding this rare anomaly.



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