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
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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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