PP25. CRYPTIC SUBTELOMERIC CHROMOSOMAL REARRANGEMENTS IN CASES WITH IDIOPATHIC MENTAL RETARDATION AND DYSMORPHIC FEATURES
M. Ozcan Caliskan1, E. Mıhci2, S. Berker Karaüzüm1, S. Tacoy2, G. LULECI1 1 Akdeniz University, Faculty of Medicine, Department of Medical Biology and Genetics, 2 Akdeniz University, Faculty of Medicine, Department of Pediatrics, Antalya, TURKEY e-mail: luleci@akdeniz.edu.tr
*Corresponding Author:
page: 58

Abstract

Mental retardation (MR) has a 2-3% frequency in general population. Several studies have reported that unbalanced cryptic subtelomeric rearrangements are a significant cause of idiopathic MR cases who have had apparently normal karyotypes with GTG-banding. Most of the telomeric regions are G-band negative and morphologically similar to each other. Therefore, the cryptic rearrangements of these regions have been proved by Fluorescence In Situ Hybridization (FISH) using chromosome-specific subtelomeric probes. In our study, 85 cases with idiopathic MR and dysmorphic features with normal conventional karyotypes were investigated by FISH using subtelomeric region specific probes. Subtelomeric chromosomal rearrangaments were detected in 10 of 85 patients as 46,XX.ish del(1)(pter)de novo in one patient, 46,XX.ish del(2)(qter)de novo in one patient, 46, XX.ish del(4)(pter) de novo in two patients, 46,XX.ish del(9)(pter) de novo in one patient, 46, XX.ish del(9)(qter) in one patient, 46,XX.ish der(5)t(5;15)(pter;qter)pat in two brothers, 46,XY.ish der(10)t(10;18)(pter;pter) de novo in one patient, 46,XX.ish rec(10)dup(10pter)-inv(10)(pterqter)mat in one patient, 46,XX.ish der(18)t(18;22)(qter;qter) de novo in one patient. Except for one case, the parents of all cases with cryptic subtelomeric chromosomal rearrangements were also evaluated by FISH. In conclusion, the detection of subtelomeric chromosomal rearrangements are of great importance in genetic counseling and prenatal diagnosis in both familial and sporadic cases with idiopathic MR and dysmorphic features. While the deletions of 1pter, 2qter, 4pter and 9pter are seen frequently, the deletion of 9qter is rare. The unbalanced translocations between (10pter;18pter), (18qter;22qter) and (5pter;15qter) were detected for first time in literature.




Number 27
VOL. 27 (2), 2024
Number 27
VOL. 27 (1), 2024
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

 

 


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