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 download article in pdf format
|
Abstract
Constitutional chromosomal abnormalities are
an important cause of miscarriage, infertility, congenital
anomalies and mental retardation in humans.
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.
Most of the reported cases with inv(Y) are
familial. For carriers of pericentric inversions the
risk of mental retardation or multiple abortions is
not apparently increased and there is no relation with
abnormal phenotypic features. Polymerase chain reaction
(PCR) analysis to detect microdeletions along
the Y-chromosome as well as cytogenetic and fluorescence
in situ hybridization (FISH) analysis were
done to delineate the characteristics of an inv(Y) in a
Syrian family. Thus, we present a detailed molecularcytogenetic
characterization of a father and his two
sons having an inv(Y)(p11. 2q11.221~q11.222) with
varying mental retardation features but otherwise
normal phenotype.
Keywords: Y-Chromosome; Inversion; Mental
retardation; Fluorescence in situ hybridization
(FISH); Ampli-conic fertility genes.
|
|
|
|
|
Number 26 Number 26 VOL. 26(2), 2023 All in one |
Number 26 VOL. 26(2), 2023 |
Number 26 VOL. 26, 2023 Supplement |
Number 26 VOL. 26(1), 2023 |
Number 25 VOL. 25(2), 2022 |
Number 25 VOL. 25 (1), 2022 |
Number 24 VOL. 24(2), 2021 |
Number 24 VOL. 24(1), 2021 |
Number 23 VOL. 23(2), 2020 |
Number 22 VOL. 22(2), 2019 |
Number 22 VOL. 22(1), 2019 |
Number 22 VOL. 22, 2019 Supplement |
Number 21 VOL. 21(2), 2018 |
Number 21 VOL. 21 (1), 2018 |
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 |
|
|