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

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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