MOLECULAR CYTOGENETIC CHARACTERIZATION OF
AN inv(Y)(p11.2q11.221~q11.222) IN A SYRIAN FAMILY Al-Achkar W1,*, Wafa A1, Al-Ablog A1, Moassass F1, Liehr T2 *Corresponding Author: Professor Walid Al-Aachkar, Department of Molecular Biology and Biotechnology,
Division of Human Genetics, Atomic Energy Commission of Syria, P.O. Box 6091, Damascus, Syria; Tel.: +963-
11-213-2580; Fax: +963-11-611-2289; E-mail: ascientific@aec.org.sy page: 73
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INTRODUCTION
Pericentric inversions of the human Y-chromosome
[inv(Y)] are rather common and show an
estimated incidence of 0.6-1:1,000 in males in the
general population [1]. Most of the reported cases
with inv(Y) are familial [2] and may include progeny
with aneuploidies, preferentially +21,XXY and
other chromosomal syndromes. For the carriers of
inv(Y) the risk of mental retardation, multiple abortions
or phenotypic abnormalities is not apparently
increased [3,4].
It makes sense that inv(Y) neither impedes the
production of normal sperm nor does it predispose
non disjunction of other chromosomes in the progeny
[5-6], i.e., it is normally considered as a chromosomal
heteromorphism [3-4]. However, inv(Y)
has also been reported in association with infertility
[7] and in patients with either concomitant minute
Yq11 deletions [8] or a breakpoint in the ‘deleted in
azoospermia’ (DAZ) gene cluster region [9]. In this
report, we present a detailed molecular and molecular
cytogenetic characterization of a family having an
inv(Y) (p11.2q11.221~q11.222) over two generations
and different clinical outcomes.
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