Balkan Journal of Medical Genetics

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

RESULTS

Metaphases analysis in our patient identified the presence of three cell populations: − The first one has total chromosome X monosomy and represents 31% of the metaphases analyzed (Figure 1). − The second, with a normal X chromosome, and one isochromosome of the long arm of the other X chromosome, found on 43% of the metaphases analyzed (Figure 1). − The third one, with a normal X chromosome and two isochromosomes of the long arm of the X chromosome, found on 26% of the metaphases analyzed (Figure 1). A control cell culture was performed from a second blood sample of the patient and confirmed the chromosomal abnormality.

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