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].



Number 22
VOL. 22(1), 2019
Number 22
VOL. 22, 2019 Accepted articles
Number 22
VOL. 22, 2019 Supplement
Number 21
VOL. 21(2), 2018
Number 21
VOL. 21 (1), 2018
Number 21
VOL. 21, 2018 Accepted articles
Number 21
VOL. 21, 2018 Supplement
Number 20
VOL. 20 (2), 2017
Number 20
VOL. 20 (1), 2017
Number 19
VOL. 19 (2), 2016
Number 19
VOL. 19 (1), 2016
Number 18
VOL. 18 (2), 2015
Number 18
VOL. 18 (1), 2015
Number 17
VOL. 17 (2), 2014
Number 17
VOL. 17 (1), 2014
Number 16
VOL. 16 (2), 2013
Number 16
VOL. 16 (1), 2013
Number 15
VOL. 15 (2), 2012
Number 15
VOL. 15, 2012 Supplement
Number 15
Vol. 15 (1), 2012
Number 14
14 - Vol. 14 (2), 2011
Number 14
The 9th Balkan Congress of Medical Genetics
Number 14
14 - Vol. 14 (1), 2011
Number 13
Vol. 13 (2), 2010
Number 13
Vol.13 (1), 2010
Number 12
Vol.12 (2), 2009
Number 12
Vol.12 (1), 2009
Number 11
Vol.11 (2),2008
Number 11
Vol.11 (1),2008
Number 10
Vol.10 (2), 2007
Number 10
10 (1),2007
Number 9
1&2, 2006
Number 9
3&4, 2006
Number 8
1&2, 2005
Number 8
3&4, 2004
Number 7
1&2, 2004
Number 6
3&4, 2003
Number 6
1&2, 2003
Number 5
3&4, 2002
Number 5
1&2, 2002
Number 4
Vol.3 (4), 2000
Number 4
Vol.2 (4), 1999
Number 4
Vol.1 (4), 1998
Number 4
3&4, 2001
Number 4
1&2, 2001
Number 3
Vol.3 (3), 2000
Number 3
Vol.2 (3), 1999
Number 3
Vol.1 (3), 1998
Number 2
Vol.3(2), 2000
Number 2
Vol.1 (2), 1998
Number 2
Vol.2 (2), 1999
Number 1
Vol.3 (1), 2000
Number 1
Vol.2 (1), 1999
Number 1
Vol.1 (1), 1998

 

 


 About the journal ::: Editorial ::: Subscription ::: Information for authors ::: Contact
 Copyright © Balkan Journal of Medical Genetics 2006