FAMILIAL UNBALANCED REARRANGEMENTS OF CHROMOSOME 5 DUE TO A MATERNAL BALANCED TRANSLOCATION 5;9
Sukarova-Angelovska E, Kocova M*
*Corresponding Author: Professor Dr. Mirjana Kocova, Pediatric Clinic, Medical Faculty, Vodnjanska 17, 1000 Skopje, Republic of Macedonia; Tel: +389-111-713; Fax: 389-129-027; E-mail: ozonunit@unet.com.mk
page: 73

INTRODUCTION

Structural rearrangements of chromosome 5p occur in 1:15,000-1:50,000 newborns. The prevalence in the popu­lation of mentally retarded individuals is 1:350 [1]. It includes monosomies, inversions and, less frequently, trisomies of portions of chromosome 5.

Cri du chat syndrome (CdCS) is associated with a deletion of the short arm of chromosome 5. Breakpoints differ ranging from 5p13 (D5S763) to 5p15.2 (D5S18). The critical region is 5p15.2-15.3 [1]. The phenotypic expression of the syndrome is variable. The severity of the clinical signs and the mental retardation are related to the size of the deleted portion. Most cases (75%) are caused by a de novo terminal deletion of 5p13-p15. Interstitial deletion due to inversions of chromosome 5 occurs in 8% of cases [2]. Translocation as a cause for CdCS in some population studies occurs with different frequencies; from 8-15%. Most of the translocations are de novo, and some are caused by a familial rearrangement of chromosome 5 [3,4]. In a large cohort of 80 patients, familial transloca­tion was detected in only three cases (3.75%) [4].

Partial trisomy of 5p, on the other hand, is caused mostly by familial translocations of chromosome 5. There is only one report of trisomy 5p without other structural rearrangements of chromosomes in the family [5]. Depending on the length of a trisomic part of chromosome 5, there is a different, although severe, expression in affected individuals.




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