
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 download article in pdf format
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Abstract
Turner Syndrome (TS) is a genetic disorder caused by
total or partial loss of an X chromosome. 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. We report on a rare case of TS with double
i(X). This is an 11-year-old female patient , addressed
to the medical genetics consultation for short stature and
facial features suggestive of TS. We performed a constitutional
postnatal karyotype from a peripheral blood
sample, with lymphocyte culture, and an R band analysis,
performed on 70 metaphases. Metaphases analysis in our
patient identified the presence of three cell populations:
45,X[22]/46,X,i(X)(q10)[30]/47,X,i(X)(q10),i(X)(q10)
[18]. The first has total chromosome X monosomy, the second
with a normal X chromosome and one isochromosome
of the long arm of the other X chromosome and the third
with a normal X chromosome and two isochromosomes of
the long arm of the X chromosome. A control cell culture
was performed from a second blood sample of the patient
and confirmed the abnormality. This paper will discuss
this case in comparison with other rare cases described,
as well as the formation of the double isochromosome,
based on the literature.
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