PRENATAL DIAGNOSIS OF TRANSLOCATION 13;13 PATAU SYNDROME: CLINICAL FEATURES OF TWO CASES
Pazarbaþi A1,*, Demirhan O1, Süleymanova-Karahan D1,Taþtemir D1, Tunç E1, Gümürdülü D2
*Corresponding Author: Ayfer Pazarbaþi, Ph.D., Department of Medical Biology and Genetics, School of Medicine, Çukurova University, 01330 Balcali, Adana, Turkey; Tel.: +90-322-338-70- 68; Fax: +90-322-338-65-72; E-mail: payfer@cu.edu.tr
page: 69

DISCUSSION

 

Genetically unbalanced embryos usually miscarry. Most of the miscarriages occur in the first trimester as is true for all miscarriages, regardless of the cause [1]. The incidence of having a baby with this syndrome is in the range of 0.04-0.162% (unpublished data, our laboratory results). Although our two cases had rob(13;13) in their karyotypes, the expression of several of the features often seen with trisomy 13 were different in these two cases. Due to the difference in chromosomal makeup seen in non disjunction vs. translocation, there may be differences in expression of several of the features often seen with tri somy 13 [2]. Bugge et al. [13] used 20 polymerase chain reaction (PCR)-based DNA polymorphisms to determine whether trisomy 13 due to de novo rea(13q;13q) in six cases is caused by translocation (13q;13q) or isochromosome (13q;13q), and to determine the parental origin of the rearrangements and the mechanisms of formation. They found that the six probands were three live born children with clinical features characteristic of Patau’s syndrome and three fetuses diagnosed prenatally by amniocentesis for chorionic villus sampling (CVS). Five cases were isochro mosomes with two identical q arms, one of maternal and four of paternal origin. Only one case was a Robertsonian translocation of maternal origin. On the cytogenetic level, it was not possible to distinguish an isochromosome i(13q) from a Robertsonian translocation of two homologous chromosomes 13. DNA studies of trisomy 21 due to de novo rea(21q;21q) have concluded that the majority is due to isochromosomes i(21q) and not translocations between two chromosomes 21 [14-17]. Similar studies of trisomy 13 with de novo rea(13q;13q) have shown similar results, but the number of cases studied has been very limited [18-21]. Our cases of trisomy 13 due to de novo rob(13q;13q) were translocations on the cytogenetic level. We could not determine the parental origin and mechanisms of formation, and compare these findings with previously published cases. Trisomy 13 remains a lethal disorder. The geneticist and/or genetic counselor can provide specifics on inheritance, recurrence risk, and the implications for further genetic testing of family members.




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