Balkan Journal of Medical Genetics

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

MATERIALS AND METHODS

Patient History. A 37-year-old male, his unrelated 32-year-old wife and the two sons of the family are reported, aged 15 and 17, respectively. The mother was healthy and had a karyotype 46,XX. Father and both sons had varying features of mental retardation but otherwise normal phenotypes. The parents did not have any history of miscarriages. Cytogenetic and Molecular Cytogenetic Analyses. Cytogenetic analysis using GTG-banding was performed according to standard procedures [10]. A minimum of 20 metaphases analyzed from stimulated peripheral blood cultures were analyzed. Karyotypes were described according to the International System for Human Cytogenetic Nomenclature [11]. Fluorescence in situ hybridization (FISH) was carried out on the metaphases using commercially available probes (LSI SRY), subtelomeric for Xp/Yp and Xq/Yq and centromeric for Y (DYZ3) (Abbott Molecular/Vysis, Des Plaines, IL, USA). Additionally centromere-near probes of the previously reported subcentromeric multicolor-FISH (subcenM-FISH) mix were applied [8]. A minimum of 20 metaphases spreads were analyzed. The results were evaluated on a fluorescence microscope (AxioImager.Z1 mot; Zeiss, Jena, Germany) equipped with appropriate filter sets to discriminate between a maximum of five fluorochromes and the counterstain DAPI (4’,6-diamino- 2-phenylindole). Image capturing and processing were carried out using an Isis imaging system (MetaSystems, Altlussheim, Germany). Molecular Analysis. The azoospermia factor (AZF) microdeletions on the Y-chromosome were detected according to the procedure of Al-Achkar et al. [12].

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