Balkan Journal of Medical Genetics

CYTOGENETIC FINDINGS IN MENTALLY RETARDED IRANIAN PATIENTS
Nasiri F1, Mahjoubi F1,2,*, Manouchehry F1, Razazian F1, Mortezapour F1, Rahnama M1
*Corresponding Author: Dr. Frouzandeh Mahjoubi, Genetics Department, Iran Blood Transfusion Organization Research Centre, High Institute for Research and Education in Transfusion Medicine, Hemmat Express Way, Next to the Milad Tower, Tehran, Iran; Tel.: +9821-44580389; Fax: +9821-44580399; E-mail: Frouz@ nigeb.ac.ir
page: 29

RESULTS

In our study of 865 screened subjects (287 females, 578 males), anomalies were identified in 205 of the patients (23.6%). The majority were Down’s syndrome cases (n = 138, 15.9% of all the screened MR cases, and 67.3% of the cases with chromosome abnormalities). In 33 males, a positive fragile X anomaly was found (3.8% of all the screened MR cases, and 16% of the cases with chromosome abnormalities). The remainder (n = 34, 3.9% of all the screened MR cases, and 16.5% of the cases with chromosome abnormalities) had other chromosomal abnormalities (Table 1), mainly structural chromosome aberrations (n = 23). The chromosomal anomalies in these patients were mostly of de novo origin except in six cases (patients #12, #13, #16, #17, #18 and #19). In five cases parental chromosome study could not be performed (patients #9, #10, #11, #14 and #21). Marker chromosomes with an unknown origin found in three de novo cases. Sex chromosome aneuploidy was detected in six patients. Twelve cases had inversion 9q which is believed to be a normal variant.

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