Balkan Journal of Medical Genetics

REPORT OF A NEW CASE WITH PENTASOMY X AND NOVEL CLINICAL FINDINGS
Demirhan O, Tanriverdi N, Yilmaz MB, Kocaturk-Sel S, Inandiklioglu N, Luleyap U, Akbal E, Comertpay G,Tufan T, Dur O
*Corresponding Author: Professor Dr. Osman Demirhan, Department of Medical Biology and Genetics, Faculty of Medicine, Çukurova University, 01330 Saricam, Adana, Turkey. Tel: +90-322-338-7140. Fax: +90-322- 338-6572. E-mail: osdemir@cu.edu.tr
page: 85

RESULTS

In this study, the mother had three previous pregnancies that resulted in the delivery of healthy children. In the present pregnancy, all of the infant cells analyzed had an abnormal karyotype of 49,XXXXX, and some cells have structural abnormalities such as del(13)(q22-p2), chromatin break (3q) and rosette formation (Figure 2). There was no evidence of mosaicism. The phenotypically normal siblings, mother and father all had normal karyotypes (46,XX or 46,XY) (Figure 3). In this study, 11 gender STR markers were amplified: chromosome X specific; SBMA, DXS6803, DXS6809, DXS8377 and HPRT; both chromosomes X- and Y-specific; AMXY, DXYS218, X22, DXYS267 and DXYS156; chromosome Y-specific, SRY and chromosomes 3- and X-specific TAF9L. The TAF9L region was used for the determination of the numbers of chromosomes X and 3 to compare somatic vs. sex chromosomes. When the peak areas of AMXY and DXYS218 of the child, mother, and father were compared, it can be seen that there is an imbalance of the X chromosome in the child. This condition indicates the penta X condition of the child. As it was seen in Figure 3, all the chromosome X specific STR markers of the child inherited from the mother (origin of the aneuploidy is maternal) and heterozygosity was retained in all regions (proximal, medial and distal regions) of the four X chromosomes, this is the expected condition of non disjunction in both meiosis I and meiosis II. This showed that four of the X chromosomes of the child originated from the mother, and revealed a de novo tetrasomy of maternal chromosome X. The other X chromosome originated from the father.

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